Publications

Total
Publications
68

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.

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

    Deciphering Developmental Disorders Study

    Nature 2017;542;7642;433-438

  • 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) 2015;385;9975;1305-14

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

    Deciphering Developmental Disorders Study

    Nature 2015;519;7542;223-8

 

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