Data sharing is a fundamental part of DDD to aid diagnoses and discoveries in the future. We aim to publish as much of our
research as possible in peer-reviewed publications to increase the understanding of developmental disorders. Below is the
list of DDD manuscripts published so far. They include papers describing our methods and key findings, as well as
manuscripts specialising in individual genes or specific developmental disorders.
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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K, Newbury DF and Kini U
Human molecular genetics 2023;32;11;
PUBMED: 37010288; PMC: 10196673; DOI: 10.1093/hmg/ddad023
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Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, My-Hoa Ngu A, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P, DDD Study, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A and Michaud JL
Genetics in medicine : official journal of the American College of Medical Genetics 2023;
PUBMED: 37092537; DOI: 10.1016/j.gim.2023.100856
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Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Kesim Y, Ceroni F, Damián A, Blanco-Kelly F, Ayuso C, Williamson K, Paquis-Flucklinger V, Bax DA, Plaisancié J, Rieubland C, Chamlal M, Cortón M, Chassaing N, Calvas P and Ragge NK
European journal of human genetics : EJHG 2023
PUBMED: 36997679; DOI: 10.1038/s41431-023-01342-8
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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M and Kurian MA
Cells 2023;12;7
PUBMED: 37048120; PMC: 10093404; DOI: 10.3390/cells12071046
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ and Stessman HAF
Science advances 2023;9;10;
PUBMED: 36897941; PMC: 10005179; DOI: 10.1126/sciadv.ade1463
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SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Edgerley K, Bryson L, Hanington L, Irving R, Joss S, Lampe A, Maystadt I, Osio D, Richardson R, Split M, Sansbury FH, Scurr I, Stewart H, McNeil A and Low K
American journal of medical genetics. Part A 2023;191;5;
PUBMED: 36861937; DOI: 10.1002/ajmg.a.63124
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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
Cannon S, Williams M, Gunning AC and Wright CF
BMC medical genomics 2023;16;1;
PUBMED: 36855133; PMC: 9972633; DOI: 10.1186/s12920-023-01454-6
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The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
Poole RL, Bijlsma EK, Houge G, Jones G, Mikštienė V, Preikšaitienė E, Thompson L and Tatton-Brown K
Clinical dysmorphology 2023;32;2;
PUBMED: 36876344; DOI: 10.1097/MCD.0000000000000455
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Hypothesis-free phenotype prediction within a genetics-first framework.
Lu C, Zaucha J, Gam R, Fang H, Ben Smithers, Oates ME, Bernabe-Rubio M, Williams J, Zelenka N, Pandurangan AP, Tandon H, Shihab H, Kalaivani R, Sung M, Sardar AJ, Tzovoras BG, Danovi D and Gough J
Nature communications 2023;14;1;
PUBMED: 36808136; PMC: 9938118; DOI: 10.1038/s41467-023-36634-6
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Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wödl S, Bertrand M, Haack TB, Grasemann C, Manka E, Depienne C and Kaiser FJ
International journal of molecular sciences 2023;24;4
PUBMED: 36834931; PMC: 9964377; DOI: 10.3390/ijms24043519
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Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Poole RL, Badonyi M, Cozens A, Foulds N, Marsh JA, Rahman S, Ross A, Schooley J, Straub V, Quigley AJ, FitzPatrick D and Lampe A
European journal of medical genetics 2023;66;3;
PUBMED: 36639056; DOI: 10.1016/j.ejmg.2023.104696
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SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W and Cobben JM
American journal of medical genetics. Part A 2022;191;3;
PUBMED: 36515361; DOI: 10.1002/ajmg.a.63078
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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
Aitken S, Firth HV, Wright CF, Hurles ME, FitzPatrick DR and Semple CA
HGG advances 2022;4;1;
PUBMED: 36561149; PMC: 9763511; DOI: 10.1016/j.xhgg.2022.100162
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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H and Maroofian R
Genetics in medicine : official journal of the American College of Medical Genetics 2022;25;1;
PUBMED: 36399134; DOI: 10.1016/j.gim.2022.09.016
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Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.
Gillentine MA, Wang T and Eichler EE
Biomedicines 2022;10;11
PUBMED: 36359385; PMC: 9687899; DOI: 10.3390/biomedicines10112865
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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Wang T, Kim CN, Bakken TE, Gillentine MA, Henning B, Mao Y, Gilissen C, SPARK Consortium, Nowakowski TJ and Eichler EE
Proceedings of the National Academy of Sciences of the United States of America 2022;119;46;
PUBMED: 36350923; PMC: 9674258; DOI: 10.1073/pnas.2203491119
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H and Genomics England Research Consortium
Genetics in medicine : official journal of the American College of Medical Genetics 2022;25;1;
PUBMED: 36331550; DOI: 10.1016/j.gim.2022.09.013
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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A and Kini U
Genetics in medicine : official journal of the American College of Medical Genetics 2022;25;1;
PUBMED: 36322149; DOI: 10.1016/j.gim.2022.09.007
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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y and Bellen HJ
American journal of human genetics 2022;109;10;
PUBMED: 36206744; PMC: 9606480; DOI: 10.1016/j.ajhg.2022.09.005
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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF and Tucker SJ
Nature genetics 2022;54;10;
PUBMED: 36195757; PMC: 9534757; DOI: 10.1038/s41588-022-01185-x
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA and Scott DA
American journal of medical genetics. Part A 2022;188;12;
PUBMED: 36135330; PMC: 9669235; DOI: 10.1002/ajmg.a.62976
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, ATP6V1A collaborators, Masuelli L, Conti V, Novarino G and Fassio A
Brain : a journal of neurology 2022;145;8;
PUBMED: 35675510; DOI: 10.1093/brain/awac145
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Expanding the phenotype of TAB2 variants and literature review.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G and Balasubramanian M
American journal of medical genetics. Part A 2022;188;11;
PUBMED: 35971781; PMC: 9804770; DOI: 10.1002/ajmg.a.62949
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Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J and Suri M
European journal of medical genetics 2022;65;10;
PUBMED: 35918038; DOI: 10.1016/j.ejmg.2022.104572
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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ and Kurian MA
Movement disorders : official journal of the Movement Disorder Society 2022;37;10;
PUBMED: 35876425; PMC: 9796674; DOI: 10.1002/mds.29147
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The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH and Balasubramanian M
Neurology 2022;99;14;
PUBMED: 36192182; PMC: 9576304; DOI: 10.1212/WNL.0000000000200927
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK and Kleefstra T
Genetics in medicine : official journal of the American College of Medical Genetics 2022;24;10;
PUBMED: 35833929; DOI: 10.1016/j.gim.2022.06.007
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Monogenic disorders as mimics of juvenile idiopathic arthritis.
Furness L, Riley P, Wright N, Banka S, Eyre S, Jackson A and Briggs TA
Pediatric rheumatology online journal 2022;20;1;
PUBMED: 35717242; PMC: 9206249; DOI: 10.1186/s12969-022-00700-y
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Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.
Yates TM, Lain A, Campbell J, FitzPatrick DR and Simpson TI
Database : the journal of biological databases and curation 2022;2022
PUBMED: 35670729; PMC: 9216525; DOI: 10.1093/database/baac038
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Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J, Genomics England Research Consortium, Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R and Hurles M
Nature 2022;605;7910;
PUBMED: 35545669; PMC: 9117138; DOI: 10.1038/s41586-022-04712-2
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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE and Bahi-Buisson N
Journal of medical genetics 2022;60;2;
PUBMED: 35393335; DOI: 10.1136/jmedgenet-2021-107971
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, University of Washington Center for Mendelian Genomics, Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H and Bhoj EJ
HGG advances 2022;3;3;
PUBMED: 35469323; PMC: 9034099; DOI: 10.1016/j.xhgg.2022.100102
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PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF, Ko SY, Frankland PW, Hamel PA and Vincent JB
Genes 2022;13;3
PUBMED: 35328080; PMC: 8953913; DOI: 10.3390/genes13030527
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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Yuan X, Wang J, Dai B, Sun Y, Zhang K, Chen F, Peng Q, Huang Y, Zhang X, Chen J, Xu X, Chuan J, Mu W, Li H, Fang P, Gong Q and Zhang P
Briefings in bioinformatics 2022;23;2
PUBMED: 35134823; PMC: 8921623; DOI: 10.1093/bib/bbac019
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M, Deciphering Developmental Disorders Study, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS and van Haaften G
American journal of human genetics 2022;109;4;
PUBMED: 35202563; PMC: 9069069; DOI: 10.1016/j.ajhg.2022.02.003
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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H and Zweier C
Human molecular genetics 2022;31;3;
PUBMED: 34505148; PMC: 8825234; DOI: 10.1093/hmg/ddab265
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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL and Baker K
Genetics in medicine : official journal of the American College of Medical Genetics 2022;24;4;
PUBMED: 35101335; PMC: 8986325; DOI: 10.1016/j.gim.2021.12.002
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME and Lin AE
American journal of medical genetics. Part A 2022;188;5;
PUBMED: 35025139; DOI: 10.1002/ajmg.a.62645
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Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.
Sheikh TI, Harripaul R, Vasli N, Ghadami M, Santangelo SL, Ayub M, Sasanfar R and Vincent JB
Genes 2021;13;1
PUBMED: 35052391; PMC: 8774667; DOI: 10.3390/genes13010051
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Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M and Balasubramanian M
American journal of medical genetics. Part A 2021;188;3;
PUBMED: 34894057; DOI: 10.1002/ajmg.a.62595
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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS and Gardella E
Genetics in medicine : official journal of the American College of Medical Genetics 2021;24;3;
PUBMED: 34906499; DOI: 10.1016/j.gim.2021.11.004
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Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Woods E, Spiller M and Balasubramanian M
American journal of medical genetics. Part A 2021;188;3;
PUBMED: 34821460; DOI: 10.1002/ajmg.a.62580
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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A and Vasileiou G
The Journal of clinical endocrinology and metabolism 2021;106;12;
PUBMED: 34383079; DOI: 10.1210/clinem/dgab592
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A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Gazdagh G, Mawby R, Self JE, Baralle D and Deciphering Developmental Disorders Study
American journal of medical genetics. Part A 2021;188;3;
PUBMED: 34787370; DOI: 10.1002/ajmg.a.62569
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TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, Feng L, Ala P, Zaharieva I, Ragge N, Roper H, Marton T, Cox P, Milev MP, Liang WC, Maruyama S, Nishino I, Sacher M, Phadke R and Muntoni F
Neuropathology and applied neurobiology 2021;48;2;
PUBMED: 34648194; DOI: 10.1111/nan.12771
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B and Fahrner JA
NPJ genomic medicine 2021;6;1;
PUBMED: 34750377; PMC: 8576018; DOI: 10.1038/s41525-021-00256-y
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Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
Kyrousi C, O'Neill AC, Brazovskaja A, He Z, Kielkowski P, Coquand L, Di Giaimo R, D' Andrea P, Belka A, Forero Echeverry A, Mei D, Lenge M, Cruceanu C, Buchsbaum IY, Khattak S, Fabien G, Binder E, Elmslie F, Guerrini R, Baffet AD, Sieber SA, Treutlein B, Robertson SP and Cappello S
Nature communications 2021;12;1;
PUBMED: 34728600; PMC: 8564519; DOI: 10.1038/s41467-021-26447-w
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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Gardner EJ, Sifrim A, Lindsay SJ, Prigmore E, Rajan D, Danecek P, Gallone G, Eberhardt RY, Martin HC, Wright CF, FitzPatrick DR, Firth HV and Hurles ME
American journal of human genetics 2021;108;11;
PUBMED: 34626536; PMC: 8595893; DOI: 10.1016/j.ajhg.2021.09.010
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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG and Thorstensen WM
American journal of medical genetics. Part A 2021;188;1;
PUBMED: 34515416; DOI: 10.1002/ajmg.a.62492
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AHDC1 missense mutations in Xia-Gibbs syndrome.
Khayat MM, Hu J, Jiang Y, Li H, Chander V, Dawood M, Hansen AW, Li S, Friedman J, Cross L, Bijlsma EK, Ruivenkamp CAL, Sansbury FH, Innis JW, O'Shea JO, Meng Q, Rosenfeld JA, McWalter K, Wangler MF, Lupski JR, Posey JE, Murdock D and Gibbs RA
HGG advances 2021;2;4
PUBMED: 34950897; PMC: 8694554; DOI: 10.1016/j.xhgg.2021.100049
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG, DDD Study, TUDP Consortium and Anyane Yeboa K
American journal of medical genetics. Part A 2021;185;12;
PUBMED: 34331327; PMC: 8595531; DOI: 10.1002/ajmg.a.62445
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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Genomics England Research Consortium, Boltshauser E and Sayer JA
Brain communications 2021;3;3;
PUBMED: 34423300; PMC: 8374969; DOI: 10.1093/braincomms/fcab163
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J and White SM
Journal of medical genetics 2021;59;5;
PUBMED: 34183358; DOI: 10.1136/jmedgenet-2020-107462
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L and Vitobello A
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;10;
PUBMED: 34113008; DOI: 10.1038/s41436-021-01218-6
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW and Anyane-Yeboa K
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;10;
PUBMED: 34113010; PMC: 8487955; DOI: 10.1038/s41436-021-01222-w
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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D, Lynch SA, Saggar A, Searle C, Scurr I, Turnpenny PD, Vasudevan P and Tatton-Brown K
American journal of medical genetics. Part A 2021;185;8;
PUBMED: 34032352; DOI: 10.1002/ajmg.a.62350
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, Karczewski KJ, Morales J, Gallone G, Balasubramanian M, Banka S, Gompertz L, Kerr B, Kirby A, Lynch SA, Morton JEV, Pinz H, Sansbury FH, Stewart H, Zuccarelli BD, Genomics England Research Consortium, Cook SA, Taylor JC, Juusola J, Retterer K, Firth HV, Hurles ME, Lara-Pezzi E, Barton PJR and Whiffin N
American journal of human genetics 2021;108;6;
PUBMED: 34022131; PMC: 8206381; DOI: 10.1016/j.ajhg.2021.04.025
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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y and Hakonarson H
Science advances 2021;7;20
PUBMED: 33980485; PMC: 8115915; DOI: 10.1126/sciadv.abf2066
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK and Reymond A
American journal of human genetics 2021;108;5;
PUBMED: 33961779; PMC: 8206167; DOI: 10.1016/j.ajhg.2021.04.001
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A and Laumonnier F
American journal of human genetics 2021;108;5;
PUBMED: 33894126; PMC: 8206156; DOI: 10.1016/j.ajhg.2021.04.004
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE and Lee BH
American journal of medical genetics. Part A 2021;185;7;
PUBMED: 33847457; DOI: 10.1002/ajmg.a.62201
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PTPN4 germline variants result in aberrant neurodevelopment and growth.
Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, Zuteck M, Seaver LH, Ploski R, Dziembowska M, Wynshaw-Boris A and Adegbola A
HGG advances 2021;2;3
PUBMED: 34527963; PMC: 8439436; DOI: 10.1016/j.xhgg.2021.100033
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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ and Sobering AK
Journal of inherited metabolic disease 2021;44;4;
PUBMED: 33734437; PMC: 8720508; DOI: 10.1002/jimd.12378
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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D and Banka S
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;7;
PUBMED: 33674768; PMC: 8257478; DOI: 10.1038/s41436-021-01119-8
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH and Yu TW
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;6;
PUBMED: 33658631; PMC: 9472083; DOI: 10.1038/s41436-021-01114-z
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Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.
Copeland H, Kivuva E, Firth HV and Wright CF
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;6;
PUBMED: 33603196; PMC: 8187151; DOI: 10.1038/s41436-021-01110-3
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL and Tartaglia M
American journal of human genetics 2021;108;3;
PUBMED: 33596411; PMC: 8008487; DOI: 10.1016/j.ajhg.2021.01.015
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM and Kutsche K
European journal of human genetics : EJHG 2021;29;9;
PUBMED: 33594261; PMC: 8440610; DOI: 10.1038/s41431-021-00818-9
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ and Yang Y
Annals of neurology 2021;89;4;
PUBMED: 33443317; DOI: 10.1002/ana.26019
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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD and Banka S
Nature communications 2021;12;1;
PUBMED: 33547280; PMC: 7864902; DOI: 10.1038/s41467-021-21053-2
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Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Kostopoulou E, Dastamani A, Güemes M, Clement E, Caiulo S, Shanmugananda P, Dattani M, Gilbert C, Hurst JA and Shah P
Clinical endocrinology 2021;94;3;
PUBMED: 33345357; DOI: 10.1111/cen.14393
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The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Deciphering Developmental Disorders Study, Wright CF, FitzPatrick DR, Firth HV and Hurles ME
Nature communications 2021;12;1;
PUBMED: 33504798; PMC: 7840967; DOI: 10.1038/s41467-020-20852-3
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC and Mefford HC
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23;5;
PUBMED: 33473207; PMC: 8107131; DOI: 10.1038/s41436-020-01076-8
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R and Kleefstra T
European journal of human genetics : EJHG 2021;29;4;
PUBMED: 33437032; PMC: 8115148; DOI: 10.1038/s41431-020-00769-7
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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X, Genomics England Research Consortium, Rees MI, Goldfarb M and Chung SK
American journal of human genetics 2020;108;1;
PUBMED: 33245860; PMC: 7820623; DOI: 10.1016/j.ajhg.2020.10.017
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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D and Douglas AGL
European journal of human genetics : EJHG 2020;29;4;
PUBMED: 33223528; PMC: 8115115; DOI: 10.1038/s41431-020-00766-w
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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF, Eberhardt RY, Constantinou P, Hurles ME, FitzPatrick DR, Firth HV and DDD Study
Genetics in medicine : official journal of the American College of Medical Genetics 2020;23;3;
PUBMED: 33149276; PMC: 7935711; DOI: 10.1038/s41436-020-01021-9
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M and Rauch A
Genetics in medicine : official journal of the American College of Medical Genetics 2020;23;3;
PUBMED: 33149277; PMC: 7935717; DOI: 10.1038/s41436-020-01011-x
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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK and Sossin WS
Human molecular genetics 2020;29;18;
PUBMED: 32885237; PMC: 7645705; DOI: 10.1093/hmg/ddaa198
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G and Janssens V
Genetics in medicine : official journal of the American College of Medical Genetics 2020;23;2;
PUBMED: 33106617; PMC: 7862067; DOI: 10.1038/s41436-020-00981-2
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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Scottish Genomes Partnership, Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP and Members of the Scottish Genome Partnership include
Genes & development 2020;34;21-22;
PUBMED: 33060134; PMC: 7608753; DOI: 10.1101/gad.340190.120
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Parry DA, Martin CA, Greene P, Marsh JA, Genomics England Research Consortium, Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M and Jackson AP
Genetics in medicine : official journal of the American College of Medical Genetics 2020;23;2;
PUBMED: 33033404; PMC: 7862057; DOI: 10.1038/s41436-020-00980-3
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Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba S, Hertz JM and Balasubramanian M
Clinical genetics 2020;98;6;
PUBMED: 32954510; DOI: 10.1111/cge.13841
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Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
Liang ZS, Cimino I, Yalcin B, Raghupathy N, Vancollie VE, Ibarra-Soria X, Firth HV, Rimmington D, Farooqi IS, Lelliott CJ, Munger SC, O'Rahilly S, Ferguson-Smith AC, Coll AP and Logan DW
PLoS genetics 2020;16;9;
PUBMED: 32877400; PMC: 7467316; DOI: 10.1371/journal.pgen.1008916
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A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Domingo D, Nawaz U, Corbett M, Espinoza JL, Tatton-Brown K, Coman D, Wilkinson MF, Gecz J and Jolly LA
Human molecular genetics 2020;29;15;
PUBMED: 32667670; DOI: 10.1093/hmg/ddaa151
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Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL and Wright CF
Journal of medical genetics 2020;58;8;
PUBMED: 32843488; PMC: 8327323; DOI: 10.1136/jmedgenet-2020-107003
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T and Delpire E
Brain : a journal of neurology 2020;143;8;
PUBMED: 32658972; PMC: 7447514; DOI: 10.1093/brain/awaa176
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Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S and Pappas J
American journal of medical genetics. Part A 2020;182;9;
PUBMED: 32710489; DOI: 10.1002/ajmg.a.61724
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Telethon Undiagnosed Diseases Program, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A and Brunetti-Pierri N
Genetics in medicine : official journal of the American College of Medical Genetics 2020;22;11;
PUBMED: 32694869; DOI: 10.1038/s41436-020-0898-y
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA and Liu KJ
Human molecular genetics 2020;29;11;
PUBMED: 32196547; PMC: 7372553; DOI: 10.1093/hmg/ddaa050
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SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE and Goldberg EM
Annals of neurology 2020;88;2;
PUBMED: 32515017; PMC: 8552104; DOI: 10.1002/ana.25809
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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA and Bejerano G
Science translational medicine 2020;12;544
PUBMED: 32434849; PMC: 9366928; DOI: 10.1126/scitranslmed.aau9113
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R and Gordon CT
Genetics in medicine : official journal of the American College of Medical Genetics 2020;22;7;
PUBMED: 32376980; PMC: 8093014; DOI: 10.1038/s41436-020-0792-7
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Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker-Touw CML, Lynch SA, Canham N, Clowes V, Straub V, Lachlan K, Gibbon F, El Gamal M, Varghese V, Parker MJ, Newbury-Ecob R, Turnpenny PD, Gardham A, Ghali N and Balasubramanian M
American journal of medical genetics. Part A 2020;182;7;
PUBMED: 32319732; DOI: 10.1002/ajmg.a.61599
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Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Schirwani S, Hauser N, Platt A, Punj S, Prescott K, Canham N, Study DDD, Mansour S and Balasubramanian M
European journal of medical genetics 2020;63;6;
PUBMED: 32240826; DOI: 10.1016/j.ejmg.2020.103925
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R and Lyon GJ
Human molecular genetics 2020;29;5;
PUBMED: 32027362; PMC: 7104668; DOI: 10.1093/hmg/ddz173
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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH and Balasubramanian M
Human mutation 2020;41;5;
PUBMED: 32097528; DOI: 10.1002/humu.24001
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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM and Yang XJ
The Journal of clinical investigation 2020;130;3;
PUBMED: 31794431; PMC: 7269600; DOI: 10.1172/JCI131145
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A, C4RCD Research Group, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S and Baralle D
American journal of human genetics 2020;106;3;
PUBMED: 32109419; PMC: 7058823; DOI: 10.1016/j.ajhg.2020.01.018
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Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A, Eaton J, Hobbs V, Mansour S, Nolan M, Rice GI, Rodero MP, Seabra L, Uggenti C, Livingston JH, Bridges LR, Jeffrey IJM and Crow YJ
Acta neuropathologica 2020;139;5;
PUBMED: 32100099; PMC: 7181551; DOI: 10.1007/s00401-020-02137-7
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Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D, Genomics England Research Consortium and International Mouse Phenotyping Consortium
Nature communications 2020;11;1;
PUBMED: 32005800; PMC: 6994715; DOI: 10.1038/s41467-020-14284-2
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ and Ellard S
American journal of human genetics 2020;106;2;
PUBMED: 32004445; PMC: 7010973; DOI: 10.1016/j.ajhg.2020.01.007
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S, Genomics England Research
Consortium, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA and Banka S
Genetics in medicine : official journal of the American College of Medical Genetics 2020;22;5;
PUBMED: 31949313; PMC: 7200597; DOI: 10.1038/s41436-019-0743-3
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R and Fahrner JA
American journal of human genetics 2020;106;2;
PUBMED: 31928709; PMC: 7010978; DOI: 10.1016/j.ajhg.2019.12.007
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Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT, Tuluc P, Ortner NJ, Nikonishyna YV, Fernándes-Quintero ML, Liedl KR, Flucher BE, Cox H and Striessnig J
Molecular autism 2020;11;1;
PUBMED: 31921405; PMC: 6950833; DOI: 10.1186/s13229-019-0310-4
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Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Lam Z, Albaba S, Study D and Balasubramanian M
Clinical dysmorphology 2020;29;1;
PUBMED: 31577543; DOI: 10.1097/MCD.0000000000000298
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY and Gordon CT
Brain : a journal of neurology 2020;143;1;
PUBMED: 31834374; PMC: 7962909; DOI: 10.1093/brain/awz379
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Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A and Dattani MT
The Journal of clinical endocrinology and metabolism 2019;104;12;
PUBMED: 31504653; PMC: 6916815; DOI: 10.1210/jc.2019-00631
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR and Sutton VR
American journal of medical genetics. Part A 2019;182;1;
PUBMED: 31782611; PMC: 7713511; DOI: 10.1002/ajmg.a.61380
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S and Tatton-Brown K
American journal of medical genetics. Part C, Seminars in medical genetics 2019;181;4;
PUBMED: 31721432; DOI: 10.1002/ajmg.c.31749
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Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T and Tatton-Brown K
American journal of medical genetics. Part C, Seminars in medical genetics 2019;181;4;
PUBMED: 31714006; DOI: 10.1002/ajmg.c.31750
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA and FitzPatrick DR
Genetics in medicine : official journal of the American College of Medical Genetics 2019;22;3;
PUBMED: 31700164; PMC: 7056646; DOI: 10.1038/s41436-019-0685-9
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M and Banka S
Brain : a journal of neurology 2019;142;11;
PUBMED: 31637422; PMC: 6821184; DOI: 10.1093/brain/awz291
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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C, DDD Study,, Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI and Bernard G
Neurology. Genetics 2019;5;6;
PUBMED: 32042905; PMC: 6927361; DOI: 10.1212/NXG.0000000000000369
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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD, Deciphering Developmental Disorders Study, Wang K, Timmers HTM and Lyon GJ
Human mutation 2019
PUBMED: 31646703; PMC: 7187541; DOI: 10.1002/humu.23936
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Contribution of retrotransposition to developmental disorders.
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV and Hurles ME
Nature communications 2019;10;1;
PUBMED: 31604926; PMC: 6789007; DOI: 10.1038/s41467-019-12520-y
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR and DDD Study
American journal of human genetics 2019;105;5;
PUBMED: 31607427; PMC: 6848993; DOI: 10.1016/j.ajhg.2019.09.015
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder
Study, Klee EW, Lefebvre V, Clark KJ and Depienne C
Genetics in medicine : official journal of the American College of Medical Genetics 2019;22;3;
PUBMED: 31578471; PMC: 9063678; DOI: 10.1038/s41436-019-0657-0
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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.
Jackson A, Ward H, Bromley RL, Deshpande C, Vasudevan P, Scurr I, Dean J, Shannon N, Berg J, Holder S, Baralle D, Clayton-Smith J and DDD Study
Archives of disease in childhood 2019;105;4;
PUBMED: 31481360; DOI: 10.1136/archdischild-2018-316547
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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier J, Deisseroth CA, Hayward LE, Galhardo LMT, Tierno AP, Jagadeesh KA, Stenson PD, Cooper DN, Bernstein JA, Haeussler M and Bejerano G
Genetics in medicine : official journal of the American College of Medical Genetics 2019;22;2;
PUBMED: 31467448; PMC: 7301356; DOI: 10.1038/s41436-019-0643-6
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H and Kalscheuer VM
Human mutation 2019;40;12;
PUBMED: 31206972; PMC: 6874899; DOI: 10.1002/humu.23841
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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM and Tatton-Brown K
American journal of medical genetics. Part A 2019;179;10;
PUBMED: 31400068; DOI: 10.1002/ajmg.a.61321
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA and Lachlan K
Genetics in medicine : official journal of the American College of Medical Genetics 2019;22;2;
PUBMED: 31388190; PMC: 8900827; DOI: 10.1038/s41436-019-0612-0
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STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.
O'Brien S, Ng-Cordell E, DDD Study, Astle DE, Scerif G and Baker K
Journal of neurodevelopmental disorders 2019;11;1;
PUBMED: 31387522; PMC: 6683428; DOI: 10.1186/s11689-019-9278-9
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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders Study and Smithson S
American journal of medical genetics. Part A 2019;179;9;
PUBMED: 31313512; DOI: 10.1002/ajmg.a.61282
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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, Fitzgerald TW, FitzPatrick DR, Firth HV and Hurles ME
Nature communications 2019;10;1;
PUBMED: 31278258; PMC: 6611863; DOI: 10.1038/s41467-019-11059-2
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Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.
Gazdagh GE, Wang C, McGowan R, Tobias ES, Ahmed SF and DDD Study
Clinical dysmorphology 2019;28;3;
PUBMED: 30921090; DOI: 10.1097/MCD.0000000000000275
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Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.
Kanani F, Mordekar S, Parker MJ, Balasubramanian M and DDD Study
Clinical dysmorphology 2019;28;3;
PUBMED: 30998607; DOI: 10.1097/MCD.0000000000000280
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J and Jolly LA
Biological psychiatry 2019;87;2;
PUBMED: 31443933; PMC: 6925349; DOI: 10.1016/j.biopsych.2019.05.028
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD Study, Sticht H, Gregor A, Van Esch H and Zweier C
Genetics in medicine : official journal of the American College of Medical Genetics 2019;21;12;
PUBMED: 31239556; PMC: 6892744; DOI: 10.1038/s41436-019-0585-z
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Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Kaplanis J, Akawi N, Gallone G, McRae JF, Prigmore E, Wright CF, Fitzpatrick DR, Firth HV, Barrett JC, Hurles ME and Deciphering Developmental Disorders study
Genome research 2019;29;7;
PUBMED: 31227601; PMC: 6633265; DOI: 10.1101/gr.239756.118
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A and van Haeringen A
European journal of human genetics : EJHG 2019;27;11;
PUBMED: 31201375; PMC: 6871531; DOI: 10.1038/s41431-019-0413-6
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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
Ree R, Geithus AS, Tørring PM, Sørensen KP, Damkjær M, DDD study, Lynch SA and Arnesen T
BMC medical genetics 2019;20;1;
PUBMED: 31174490; PMC: 6554967; DOI: 10.1186/s12881-019-0803-1
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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J and Beeson D
Brain : a journal of neurology 2019;142;6;
PUBMED: 31081514; PMC: 6752227; DOI: 10.1093/brain/awz107
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F and FitzPatrick DR
Nature communications 2019;10;1;
PUBMED: 31147538; PMC: 6542828; DOI: 10.1038/s41467-019-10016-3
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Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.
Brittain HK, Feary J, Rosenthal M, Spoudeas H, Deciphering Developmental Disorders (DDD) Study and Wilson LC
American journal of medical genetics. Part A 2019;179;7;
PUBMED: 31091003; DOI: 10.1002/ajmg.a.61169
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The clinical presentation caused by truncating CHD8 variants.
Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S, Deciphering Developmental Disorders Study and Banka S
Clinical genetics 2019;96;1;
PUBMED: 31001818; DOI: 10.1111/cge.13554
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S and Rodan LH
American journal of human genetics 2019;104;6;
PUBMED: 31079897; PMC: 6556837; DOI: 10.1016/j.ajhg.2019.03.021
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat A, Knaus A, Juul AW, Dukic D, Gardella E, Charzewska A, Clement E, Hjalgrim H, Hoffman-Zacharska D, Horn D, Horton R, Hurst JA, Josifova D, Larsen LHG, Lascelles K, Obersztyn E, Pagnamenta A, Pal DK, Pendziwiat M, Ryten M, Taylor J, Vogt J, Weber Y, Krawitz PM, Helbig I, Kini U, Møller RS and DDD Study Group
Genetics in medicine : official journal of the American College of Medical Genetics 2019;21;10;
PUBMED: 30976099; DOI: 10.1038/s41436-019-0512-3
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL and Kurian MA
American journal of human genetics 2019;104;5;
PUBMED: 30982612; PMC: 6507039; DOI: 10.1016/j.ajhg.2019.03.005
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Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A, DDD Study, Blair E, Taylor JC and Stewart H
Clinical genetics 2019;95;6;
PUBMED: 30859559; PMC: 6563422; DOI: 10.1111/cge.13533
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Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J, Clayton-Smith J, Willoughby J, Elmslie FF, Sansbury FH, Cooper N, Deciphering Developmental Disorders (DDD) Study and Balasubramanian M
Clinical genetics 2019;95;4;
PUBMED: 30666632; DOI: 10.1111/cge.13507
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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA and Wilkie AOM
American journal of human genetics 2019;104;4;
PUBMED: 30905399; PMC: 6451695; DOI: 10.1016/j.ajhg.2019.02.006
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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM and Campeau PM
American journal of human genetics 2019;104;4;
PUBMED: 30879640; PMC: 6451697; DOI: 10.1016/j.ajhg.2019.02.001
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR and Liu P
Genome medicine 2019;11;1;
PUBMED: 30819258; PMC: 6393995; DOI: 10.1186/s13073-019-0623-0
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S and Campeau PM
American journal of human genetics 2019;104;3;
PUBMED: 30827496; PMC: 6407527; DOI: 10.1016/j.ajhg.2019.01.010
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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM and Wilson LC
American journal of medical genetics. Part A 2019;179;4;
PUBMED: 30758909; PMC: 6491982; DOI: 10.1002/ajmg.a.61073
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, DDD Study and Clayton-Smith J
American journal of medical genetics. Part A 2019;179;4;
PUBMED: 30734472; DOI: 10.1002/ajmg.a.61061
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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.
Zhou W, He Y, Rehman AU, Kong Y, Hong S, Ding G, Yalamanchili HK, Wan YW, Paul B, Wang C, Gong Y, Zhou W, Liu H, Dean J, Scalais E, O'Driscoll M, Morton JEV, DDD study, Hou X, Wu Q, Tong Q, Liu Z, Liu P, Xu Y and Sun Z
Nature neuroscience 2019;22;2;
PUBMED: 30664766; PMC: 6361549; DOI: 10.1038/s41593-018-0311-1
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Deciphering Developmental Disorders (DDD) Study, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H and Rauch A
European journal of human genetics : EJHG 2019;27;5;
PUBMED: 30664714; PMC: 6461771; DOI: 10.1038/s41431-018-0331-z
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill A, Graziano C and Lefebvre V
American journal of human genetics 2019;104;2;
PUBMED: 30661772; PMC: 6369454; DOI: 10.1016/j.ajhg.2018.12.014
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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S, Deciphering Developmental Disorders Study, Parker MJ and Tatton-Brown K
American journal of medical genetics. Part A 2019;179;3;
PUBMED: 30637921; DOI: 10.1002/ajmg.a.61024
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B and Bahram S
American journal of human genetics 2019;104;2;
PUBMED: 30639322; PMC: 6369415; DOI: 10.1016/j.ajhg.2018.12.007
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A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.
Fraser H, Goldman A, Wright R, Deciphering Developmental Disorders Study and Banka S
American journal of medical genetics. Part A 2019;179;3;
PUBMED: 30624022; DOI: 10.1002/ajmg.a.40661
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Pathogenicity and selective constraint on variation near splice sites.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME and Deciphering Developmental Disorders study
Genome research 2018;29;2;
PUBMED: 30587507; PMC: 6360807; DOI: 10.1101/gr.238444.118
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Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Michael Yates T, Ng OH, Offiah AC, Willoughby J, Berg JN, DDD Study and Johnson DS
American journal of medical genetics. Part A 2018;179;1;
PUBMED: 30556256; DOI: 10.1002/ajmg.a.60678
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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S and Sisodiya SM
Neurology 2018;91;22;
PUBMED: 30413629; PMC: 6282239; DOI: 10.1212/WNL.0000000000006567
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE and Campeau PM
Nature communications 2018;9;1;
PUBMED: 30397230; PMC: 6218476; DOI: 10.1038/s41467-018-06014-6
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The preferences of potential stakeholders in psychiatric genomic research regarding consent procedures and information delivery.
Sundby A, Boolsen MW, Burgdorf KS, Ullum H, Hansen TF, Middleton A and Mors O
European psychiatry : the journal of the Association of European Psychiatrists 2018;55;
PUBMED: 30384109; DOI: 10.1016/j.eurpsy.2018.09.005
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C, DDD Study, Kini U and Philippe C
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;6;
PUBMED: 30356099; PMC: 6752669; DOI: 10.1038/s41436-018-0339-3
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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Schirwani S, McConnell V, Willoughby J, DDD Study and Balasubramanian M
Gene 2018;685;
PUBMED: 30393191; DOI: 10.1016/j.gene.2018.10.067
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Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
Yates TM, Langley CLM, DDD Study, Grozeva D, Raymond FL and Johnson DS
Clinical genetics 2018;95;2;
PUBMED: 30353918; DOI: 10.1111/cge.13456
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H and Mefford HC
American journal of human genetics 2018;103;5;
PUBMED: 30343943; PMC: 6216110; DOI: 10.1016/j.ajhg.2018.09.006
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B, DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT and Fry AE
American journal of human genetics 2018;103;5;
PUBMED: 30343942; PMC: 6218713; DOI: 10.1016/j.ajhg.2018.09.012
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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E, DDD study, Devriendt K and Breckpot J
European journal of human genetics : EJHG 2018;27;2;
PUBMED: 30291340; PMC: 6336847; DOI: 10.1038/s41431-018-0281-5
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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S and DDD Study
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;4;
PUBMED: 30279471; PMC: 6330071; DOI: 10.1038/s41436-018-0281-4
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SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.
Kanani F, Study D and Balasubramanian M
Clinical dysmorphology 2018;27;4;
PUBMED: 29939863; DOI: 10.1097/MCD.0000000000000232
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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study,, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA and Newbury-Ecob R
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;4;
PUBMED: 30245513; PMC: 6634310; DOI: 10.1038/s41436-018-0259-2
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J and Akhtar A
Nature genetics 2018;50;10;
PUBMED: 30224647; PMC: 7398719; DOI: 10.1038/s41588-018-0220-y
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G, C4RCD Research Group, DDD study, Goldstein DB and Anyane-Yeboa K
American journal of medical genetics. Part A 2018;176;11;
PUBMED: 30194818; DOI: 10.1002/ajmg.a.40472
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R and Liu P
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;3;
PUBMED: 30158690; PMC: 6395558; DOI: 10.1038/s41436-018-0085-6
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics, DDD Study, Reis A, Sticht H and Zweier C
American journal of human genetics 2018;103;2;
PUBMED: 30057029; PMC: 6080769; DOI: 10.1016/j.ajhg.2018.07.003
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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA and Bejerano G
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;2;
PUBMED: 29997393; DOI: 10.1038/s41436-018-0072-y
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D, DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P and Chassaing N
Human genetics 2018;138;8-9;
PUBMED: 29974297; DOI: 10.1007/s00439-018-1896-x
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SET de novo frameshift variants associated with developmental delay and intellectual disabilities.
Richardson R, Splitt M, Newbury-Ecob R, Hulbert A, Kennedy J, Weber A and DDD Study
European journal of human genetics : EJHG 2018;26;9;
PUBMED: 29907757; PMC: 6117329; DOI: 10.1038/s41431-018-0199-y
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MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Balasubramanian M, Johnson DS and DDD Study
European journal of medical genetics 2018;62;2;
PUBMED: 29908352; DOI: 10.1016/j.ejmg.2018.06.011
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When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.
Wright CF, Parker M and Lucassen AM
Genetics in medicine : official journal of the American College of Medical Genetics 2018;21;1;
PUBMED: 29904162; PMC: 6169736; DOI: 10.1038/s41436-018-0023-7
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D, Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG and Wilkie AOM
American journal of human genetics 2018;102;6;
PUBMED: 29861108; PMC: 5992133; DOI: 10.1016/j.ajhg.2018.04.014
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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T and Cooper GM
Human genetics 2018;137;5;
PUBMED: 29740699; PMC: 5973976; DOI: 10.1007/s00439-018-1887-y
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Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Schirwani S, Wakeling E, Smith K, DDD Study and Balasubramanian M
American journal of medical genetics. Part A 2018;176;5;
PUBMED: 29681091; DOI: 10.1002/ajmg.a.38683
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Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A, DDD Study and Balasubramanian M
American journal of medical genetics. Part A 2018;176;5;
PUBMED: 29681108; DOI: 10.1002/ajmg.a.38656
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study and Rahman N
Wellcome open research 2018;3;
PUBMED: 29900417; PMC: 5964628; DOI: 10.12688/wellcomeopenres.14430.1
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Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, DDD Study and Joss S
European journal of medical genetics 2018;62;1;
PUBMED: 29698805; DOI: 10.1016/j.ejmg.2018.04.014
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G and Thauvin-Robinet C
American journal of human genetics 2018;102;5;
PUBMED: 29656858; PMC: 5986694; DOI: 10.1016/j.ajhg.2018.03.005
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NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.
Campbell J, FitzPatrick DR, Azam T, Gibson NA, Somerville L, Joss SK, Deciphering Developmental Disorders Study and Urquhart DS
Pediatrics 2018;141;Suppl 5;
PUBMED: 29610177; DOI: 10.1542/peds.2017-0026
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A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, DDD Study, Kinoshita T, Kini U and Taylor JC
Human mutation 2018;39;6;
PUBMED: 29573052; PMC: 6001798; DOI: 10.1002/humu.23420
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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G and Kooy RF
Biological psychiatry 2018;85;4;
PUBMED: 29724491; PMC: 6139063; DOI: 10.1016/j.biopsych.2018.02.1173
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Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S and Smithson SF
European journal of human genetics : EJHG 2018;26;6;
PUBMED: 29511323; PMC: 5974240; DOI: 10.1038/s41431-018-0110-x
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K, DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M and Ragge NK
Human genetics 2018;138;8-9;
PUBMED: 29464339; DOI: 10.1007/s00439-018-1875-2
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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B and Hennekam RC
American journal of medical genetics. Part A 2018;176;4;
PUBMED: 29460469; DOI: 10.1002/ajmg.a.38626
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Deciphering Developmental Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB and Reis A
American journal of human genetics 2018;102;3;
PUBMED: 29429572; PMC: 5985265; DOI: 10.1016/j.ajhg.2018.01.014
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Paediatric genomics: diagnosing rare disease in children.
Wright CF, FitzPatrick DR and Firth HV
Nature reviews. Genetics 2018;19;5;
PUBMED: 29398702; DOI: 10.1038/nrg.2017.116
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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.
Low KJ, James M, Sharples PM, Eaton M, Jenkinson S, Study DDD and Smithson SF
Seizure 2018;56;
PUBMED: 29414593; DOI: 10.1016/j.seizure.2018.01.013
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Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Owen CI, Bowden R, Parker MJ, Patterson J, Patterson J, Price S, Sarkar A, Castle B, Deshpande C, Splitt M, Ghali N, Dean J, Green AJ, Crosby C, Deciphering Developmental Disorders Study and Tatton-Brown K
American journal of medical genetics. Part A 2018;176;5;
PUBMED: 29383814; DOI: 10.1002/ajmg.a.38610
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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM, Deciphering Developmental Disorders Study, Bickmore WA, Pradeepa MM and FitzPatrick DR
Nature genetics 2018;50;3;
PUBMED: 29379197; PMC: 6469577; DOI: 10.1038/s41588-018-0042-y
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS and Reymond A
American journal of human genetics 2017;102;1;
PUBMED: 29290337; PMC: 5777449; DOI: 10.1016/j.ajhg.2017.12.002
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The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
McDermott JH, Study DDD, Clayton-Smith J and Briggs TA
European journal of medical genetics 2017;61;5;
PUBMED: 29288087; DOI: 10.1016/j.ejmg.2017.12.009
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study, Deciphering Developmental Disorders (DDD) Study and Banka S
American journal of human genetics 2017;102;1;
PUBMED: 29276005; PMC: 5778085; DOI: 10.1016/j.ajhg.2017.11.013
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H and Zweier C
American journal of human genetics 2017;102;1;
PUBMED: 29276004; PMC: 5777381; DOI: 10.1016/j.ajhg.2017.11.008
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Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
Ververi A, Splitt M, Dean JCS, DDD Study and Brady AF
Clinical genetics 2017;93;2;
PUBMED: 28692176; DOI: 10.1111/cge.13096
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Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.
Khan U, Study D, Baker E and Clayton-Smith J
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2017;55;3;
PUBMED: 29437512; DOI: 10.1177/1055665617739312
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR, DDD Study, Woolf AS and Banka S
American journal of human genetics 2017;101;6;
PUBMED: 29220674; PMC: 5812896; DOI: 10.1016/j.ajhg.2017.11.006
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E, DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M and Gecz J
American journal of human genetics 2017;101;6;
PUBMED: 29198722; PMC: 5812890; DOI: 10.1016/j.ajhg.2017.10.009
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ and Newbury-Ecob RA
European journal of human genetics : EJHG 2017;26;1;
PUBMED: 29180823; PMC: 5788272; DOI: 10.1038/s41431-017-0038-6
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR and Kreienkamp HJ
American journal of human genetics 2017;101;5;
PUBMED: 29100085; PMC: 5673606; DOI: 10.1016/j.ajhg.2017.09.014
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y and Mercier S
American journal of human genetics 2017;101;5;
PUBMED: 29100089; PMC: 5673671; DOI: 10.1016/j.ajhg.2017.10.003
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA and Michaud JL
American journal of human genetics 2017;101;5;
PUBMED: 29100083; PMC: 5673604; DOI: 10.1016/j.ajhg.2017.09.008
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D and Baralle D
Journal of medical genetics 2017;55;2;
PUBMED: 29097605; PMC: 5800346; DOI: 10.1136/jmedgenet-2017-104946
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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C and Thevenon J
Journal of medical genetics 2017;54;12;
PUBMED: 29074562; DOI: 10.1136/jmedgenet-2017-104748
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, DDD Study, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T and Roepman R
American journal of human genetics 2017;101;5;
PUBMED: 29106825; PMC: 5673605; DOI: 10.1016/j.ajhg.2017.09.015
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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF and Suri M
Journal of medical genetics 2017;55;1;
PUBMED: 29021403; PMC: 5749303; DOI: 10.1136/jmedgenet-2017-104620
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The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
Bayat A, Kerr B, Douzgou S and DDD Study
Clinical dysmorphology 2017;26;4;
PUBMED: 28288023; DOI: 10.1097/MCD.0000000000000169
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Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome.
Saskin A, Tischkowitz M and DDD Study
Clinical dysmorphology 2017;26;4;
PUBMED: 28872563; DOI: 10.1097/MCD.0000000000000197
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De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J, Broad Center for Mendelian Genomics, DDD study and Balasubramanian M
American journal of medical genetics. Part A 2017;173;11;
PUBMED: 28944577; PMC: 6555908; DOI: 10.1002/ajmg.a.38492
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE and Yang Y
American journal of human genetics 2017;101;4;
PUBMED: 28942966; PMC: 5630163; DOI: 10.1016/j.ajhg.2017.08.014
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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM, Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J and van Haaften G
Nature genetics 2017;49;11;
PUBMED: 28920961; DOI: 10.1038/ng.3956
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De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.
Green C, Willoughby J, DDD Study and Balasubramanian M
American journal of medical genetics. Part A 2017;173;12;
PUBMED: 28905509; DOI: 10.1002/ajmg.a.38461
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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D, Deciphering Developmental Disorders Study, Millard TH, Katsanis N, Brunner HG and Banka S
American journal of human genetics 2017;101;3;
PUBMED: 28886345; PMC: 5591022; DOI: 10.1016/j.ajhg.2017.08.007
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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, Clowes V, Vogt J, Turnpenny P, Williamson MP, Alembik Y, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Glasgow E and McNeill A
PLoS genetics 2017;13;8;
PUBMED: 28859103; PMC: 5597252; DOI: 10.1371/journal.pgen.1006957
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Detection of structural mosaicism from targeted and whole-genome sequencing data.
King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME and Deciphering Developmental Disorders Study
Genome research 2017;27;10;
PUBMED: 28855261; PMC: 5630034; DOI: 10.1101/gr.212373.116
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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC and Scheffer IE
Neurology 2017;89;10;
PUBMED: 28794249; PMC: 5589790; DOI: 10.1212/WNL.0000000000004331
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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI, Epilepsy Genomics Study, Suri M, Elmslie F, Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M and Farrer MJ
American journal of human genetics 2017;101;2;
PUBMED: 28777935; PMC: 5544417; DOI: 10.1016/j.ajhg.2017.07.004
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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI and Deardorff MA
American journal of human genetics 2017;101;1;
PUBMED: 28686853; PMC: 5501873; DOI: 10.1016/j.ajhg.2017.06.002
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Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.
Suri M, Evers JMG, Laskowski RA, O'Brien S, Baker K, Clayton-Smith J, Dabir T, Josifova D, Joss S, Kerr B, Kraus A, McEntagart M, Morton J, Smith A, Splitt M, Thornton JM, DDD Study and Wright CF
Molecular genetics & genomic medicine 2017;5;5;
PUBMED: 28944233; PMC: 5606886; DOI: 10.1002/mgg3.304
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M and Kruszka P
European journal of human genetics : EJHG 2017;25;8;
PUBMED: 28513610; PMC: 5567153; DOI: 10.1038/ejhg.2017.86
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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Deciphering Developmental Disorders Study, Lord CJ, Vissers LE and de Vries BB
American journal of human genetics 2017;100;4;
PUBMED: 28343630; PMC: 5384016; DOI: 10.1016/j.ajhg.2017.02.005
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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N, DDD Study, Kinoshita T, Taylor JC and Kini U
European journal of human genetics : EJHG 2017;25;6;
PUBMED: 28327575; PMC: 5477361; DOI: 10.1038/ejhg.2017.32
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD and Smithson SF
European journal of human genetics : EJHG 2017;25;5;
PUBMED: 28327570; PMC: 5392357; DOI: 10.1038/ejhg.2017.27
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, DDD Study, Attié-Bitach T, Boutaud L, Héron D and Mignot C
Human genetics 2017;136;4;
PUBMED: 28283832; PMC: 5360844; DOI: 10.1007/s00439-017-1772-0
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A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.
Siddique A, Willoughby J, DDD Study and McNeill A
American journal of medical genetics. Part A 2017;173;4;
PUBMED: 28240412; DOI: 10.1002/ajmg.a.38136
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Returning genome sequences to research participants: Policy and practice.
Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME and Parker M
Wellcome open research 2017;2;
PUBMED: 28317033; PMC: 5351846; DOI: 10.12688/wellcomeopenres.10942.1
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP, DDD Study and Zuberi SM
Epilepsia 2017;58;4;
PUBMED: 28166369; DOI: 10.1111/epi.13669
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Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J, UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study and FitzPatrick DR
Genetics in medicine : official journal of the American College of Medical Genetics 2017;19;8;
PUBMED: 28151491; PMC: 5548934; DOI: 10.1038/gim.2016.211
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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM, DDD Study and Wright CF
Human molecular genetics 2017;26;3;
PUBMED: 28053047; PMC: 5409128; DOI: 10.1093/hmg/ddw409
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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT and Tomkins S
Journal of medical genetics 2017;54;8;
PUBMED: 28100473; DOI: 10.1136/jmedgenet-2016-104360
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN, Deciphering Developmental Disorders study, CAUSES study, Williams J, Clouston P, Hagman J and Németh AH
American journal of human genetics 2016;100;1;
PUBMED: 28017370; PMC: 5223060; DOI: 10.1016/j.ajhg.2016.11.020
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL and Kurian MA
Nature genetics 2016;49;2;
PUBMED: 27992417; DOI: 10.1038/ng.3740
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W, DDD Study, CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM and Yang XJ
American journal of human genetics 2016;100;1;
PUBMED: 27939640; PMC: 5223032; DOI: 10.1016/j.ajhg.2016.11.011
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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay V, Louro P, Smith JC, Burn J, Kini U, De Burca A, FitzPatrick DR, Kinning E and DDD Study
European journal of medical genetics 2016;60;2;
PUBMED: 27915094; PMC: 6070129; DOI: 10.1016/j.ejmg.2016.11.008
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FHF1 (FGF12) epileptic encephalopathy.
Al-Mehmadi S, Splitt M, For DDD Study group*, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA and For CENet Study group‡
Neurology. Genetics 2016;2;6;
PUBMED: 27830185; PMC: 5087254; DOI: 10.1212/NXG.0000000000000115
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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D, DDD Study, Parker MJ, Hide W and Skerry TM
Bone 2016;94;
PUBMED: 27789416; PMC: 6067660; DOI: 10.1016/j.bone.2016.10.023
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Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, DDD Study, Bejerano G, Bernstein JA and Chitayat D
Journal of medical genetics 2016;54;3;
PUBMED: 27738187; DOI: 10.1136/jmedgenet-2016-104143
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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Deciphering Developmental Disorders Study, Wood AJ, Vagnarelli P and Jackson AP
Genes & development 2016;30;19;
PUBMED: 27737959; PMC: 5088565; DOI: 10.1101/gad.286351.116
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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV and Chelly J
Nature genetics 2016;48;11;
PUBMED: 27694961; PMC: 5086093; DOI: 10.1038/ng.3676
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M and DDD Study
Clinical dysmorphology 2016;25;4;
PUBMED: 27465822; DOI: 10.1097/MCD.0000000000000143
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Clinical and genetic aspects of KBG syndrome.
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M, DDD Study and Smithson S
American journal of medical genetics. Part A 2016;170;11;
PUBMED: 27667800; PMC: 5435101; DOI: 10.1002/ajmg.a.37842
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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM and Muenke M
American journal of human genetics 2016;99;4;
PUBMED: 27616479; PMC: 5065651; DOI: 10.1016/j.ajhg.2016.08.001
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Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.
Gazdagh G, Tobias ES, Ahmed SF, McGowan R and DDD Study Group
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016;10;3;
PUBMED: 27598577; PMC: 5079067; DOI: 10.1159/000447958
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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P, DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A and Zweier C
Journal of medical genetics 2016;54;1;
PUBMED: 27572252; DOI: 10.1136/jmedgenet-2016-104094
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M and Kalscheuer VM
Molecular psychiatry 2016;23;2;
PUBMED: 27550844; PMC: 5794876; DOI: 10.1038/mp.2016.135
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME, DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE and Komatsu M
American journal of human genetics 2016;99;3;
PUBMED: 27545674; PMC: 5010641; DOI: 10.1016/j.ajhg.2016.06.020
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM and Ahn EYE
American journal of human genetics 2016;99;3;
PUBMED: 27545680; PMC: 5011044; DOI: 10.1016/j.ajhg.2016.06.029
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, INTERVAL Study, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, UK10K Consortium, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Deciphering Developmental Disorders Study and Hurles ME
Nature genetics 2016;48;9;
PUBMED: 27479907; PMC: 5988037; DOI: 10.1038/ng.3627
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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, DDD Study, Fisher SE and Logan DW
American journal of human genetics 2016;99;2;
PUBMED: 27453576; PMC: 4974071; DOI: 10.1016/j.ajhg.2016.05.030
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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C, DDD Study, Debant A, Ennis S and Baralle D
Journal of medical genetics 2016;53;11;
PUBMED: 27418539; PMC: 5264232; DOI: 10.1136/jmedgenet-2016-103942
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F, DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M and Hennekam RC
American journal of medical genetics. Part A 2016;170;10;
PUBMED: 27311832; DOI: 10.1002/ajmg.a.37800
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A, DDD Study, van Heyningen V, Marsh JA, Elmslie F and FitzPatrick DR
American journal of human genetics 2016;98;5;
PUBMED: 27108798; PMC: 4863663; DOI: 10.1016/j.ajhg.2016.03.018
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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L, DDD study, Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ and Sistermans EA
Journal of medical genetics 2016;53;8;
PUBMED: 27075013; DOI: 10.1136/jmedgenet-2015-103601
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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB, DDD study and Abbott CM
Molecular genetics & genomic medicine 2016;4;4;
PUBMED: 27441201; PMC: 4947865; DOI: 10.1002/mgg3.219
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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG, DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G and van Haelst MM
Human molecular genetics 2016;25;11;
PUBMED: 27005418; DOI: 10.1093/hmg/ddw082
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H, Swedish Schizophrenia Study, INTERVAL Study, DDD Study, UK10 K Consortium, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ and Barrett JC
Nature neuroscience 2016;19;4;
PUBMED: 26974950; PMC: 6689268; DOI: 10.1038/nn.4267
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Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, DDD Study and Foulds N
American journal of medical genetics. Part A 2016;170;6;
PUBMED: 26940150; DOI: 10.1002/ajmg.a.37604
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Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG and DDD study
American journal of medical genetics. Part A 2016;170;3;
PUBMED: 26842493; DOI: 10.1002/ajmg.a.37476
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A and Kleefstra T
American journal of human genetics 2016;98;2;
PUBMED: 26833328; PMC: 4746365; DOI: 10.1016/j.ajhg.2015.12.015
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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV, DDD Study and Wright CF
Human molecular genetics 2016;25;5;
PUBMED: 26740553; PMC: 4754046; DOI: 10.1093/hmg/ddv625
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Principle of proportionality in genomic data sharing.
Wright CF, Hurles ME and Firth HV
Nature reviews. Genetics 2015;17;1;
PUBMED: 26593419; DOI: 10.1038/nrg.2015.5
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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K, DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK and Colleaux L
Nature neuroscience 2015;18;12;
PUBMED: 26571461; PMC: 5392243; DOI: 10.1038/nn.4169
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS, DDD Collaboration, Kühl SJ, Kini U and McNeill A
Journal of medical genetics 2015;53;3;
PUBMED: 26543203; PMC: 4789813; DOI: 10.1136/jmedgenet-2015-103393
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A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
Deciphering Developmental Disorders Study Group, Constantinou P, D'Alessandro M, Lochhead P, Samant S, Bisset WM, Hauptfleisch C and Dean J
Molecular syndromology 2015;6;5;
PUBMED: 26997947; PMC: 4772619; DOI: 10.1159/000441134
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME and DDD study
Nature genetics 2015;47;11;
PUBMED: 26437029; PMC: 5988033; DOI: 10.1038/ng.3410
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE and de Vries BB
European journal of human genetics : EJHG 2015;24;5;
PUBMED: 26306646; PMC: 4930086; DOI: 10.1038/ejhg.2015.178
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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD Study, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B and Shinawi M
Journal of medical genetics 2015;52;11;
PUBMED: 26264232; DOI: 10.1136/jmedgenet-2015-103069
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N and Kleefstra T
American journal of human genetics 2015;97;2;
PUBMED: 26235985; PMC: 4573244; DOI: 10.1016/j.ajhg.2015.07.004
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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR and Janssens V
The Journal of clinical investigation 2015;125;8;
PUBMED: 26168268; PMC: 4623570; DOI: 10.1172/JCI79860
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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D and FitzPatrick DR
American journal of medical genetics. Part A 2015;167A;10;
PUBMED: 26079862; PMC: 4744742; DOI: 10.1002/ajmg.a.37189
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Potential research participants support the return of raw sequence data.
Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M and DDD study
Journal of medical genetics 2015;52;8;
PUBMED: 25995218; PMC: 4518751; DOI: 10.1136/jmedgenet-2015-103119
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M and DDD study
European journal of human genetics : EJHG 2015;24;1;
PUBMED: 25920556; PMC: 4795240; DOI: 10.1038/ejhg.2015.58
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Absence of heterozygosity due to template switching during replicative rearrangements.
Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, DDD Study, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG and Lupski JR
American journal of human genetics 2015;96;4;
PUBMED: 25799105; PMC: 4385179; DOI: 10.1016/j.ajhg.2015.01.021
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Mosaic structural variation in children with developmental disorders.
King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME and Deciphering Developmental Disorders Study
Human molecular genetics 2015;24;10;
PUBMED: 25634561; PMC: 4406290; DOI: 10.1093/hmg/ddv033
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No expectation to share incidental findings in genomic research.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M and Deciphering Developmental Disorders Study
Lancet (London, England) 2014;385;9975;
PUBMED: 25529584; DOI: 10.1016/S0140-6736(14)62119-X
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Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, DDD study, Smith J and Clayton-Smith J
European journal of human genetics : EJHG 2014;23;9;
PUBMED: 25424711; PMC: 4351891; DOI: 10.1038/ejhg.2014.248
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Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ and Buxbaum JD
Nature 2014;515;7526;
PUBMED: 25363760; PMC: 4402723; DOI: 10.1038/nature13772
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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, DDD study, Magee AC, Turnpenny PD and Baralle D
Journal of medical genetics 2014;51;12;
PUBMED: 25342064; PMC: 4251168; DOI: 10.1136/jmedgenet-2014-102798
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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB and Carter MT
Clinical genetics 2014;88;3;
PUBMED: 25131214; DOI: 10.1111/cge.12482
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA and Scott RH
European journal of human genetics : EJHG 2014;23;5;
PUBMED: 25118028; PMC: 4402637; DOI: 10.1038/ejhg.2014.162
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Finding people who will tell you their thoughts on genomics-recruitment strategies for social sciences research.
Middleton A, Bragin E, Parker M and DDD Study
Journal of community genetics 2014;5;4;
PUBMED: 24535681; PMC: 4159472; DOI: 10.1007/s12687-014-0184-2
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
King DA, Fitzgerald TW, Miller R, Canham N, Clayton-Smith J, Johnson D, Mansour S, Stewart F, Vasudevan P, Hurles ME and DDD Study
Genome research 2013;24;4;
PUBMED: 24356988; PMC: 3975066; DOI: 10.1101/gr.160465.113
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Online questionnaire development: using film to engage participants and then gather attitudes towards the sharing of genomic data.
Middleton A, Bragin E, Morley KI, Parker M and DDD Study
Social science research 2013;44;100;
PUBMED: 24468445; PMC: 3969308; DOI: 10.1016/j.ssresearch.2013.12.004
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Empirical research on the ethics of genomic research.
Middleton A, Parker M, Wright CF, Bragin E, Hurles ME and DDD Study
American journal of medical genetics. Part A 2013;161A;8;
PUBMED: 23813698; PMC: 3884757; DOI: 10.1002/ajmg.a.36067
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The Deciphering Developmental Disorders (DDD) study.
Firth HV, Wright CF and DDD Study
Developmental medicine and child neurology 2011;53;8;
PUBMED: 21679367; DOI: 10.1111/j.1469-8749.2011.04032.x
