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.


  • Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

    Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV and DDD Study

    The New England journal of medicine 2023;388;17;1559-1571

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data.

    Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Deciphering Developmental Disorders Study, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C and Retterer K

    Nature 2020;586;7831;757-762

  • Quantifying the contribution of recessive coding variation to developmental disorders.

    Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC and Deciphering Developmental Disorders Study

    Science (New York, N.Y.) 2018;362;6419;1161-1164

  • Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

    Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME and Barrett JC

    Nature 2018;562;7726;268-271

  • De novo mutations in regulatory elements in neurodevelopmental disorders.

    Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC and Hurles ME

    Nature 2018;555;7698;611-616

  • Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

    Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV and DDD Study

    Genetics in medicine : official journal of the American College of Medical Genetics 2018;20;10;1216-1223

  • Prevalence and architecture of de novo mutations in developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2017;542;7642;433-438

  • Large-scale discovery of novel genetic causes of developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2014;519;7542;223-8

  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

    Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV and DDD study

    Lancet (London, England) 2014;385;9975;1305-14


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