Works by Study, Deciphering Developmental Disorders

Results: 3
    1

    Extending the phenotype associated with the <italic>CSNK2A1‐</italic>related Okur–Chung syndrome—A clinical study of 11 individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1108, doi. 10.1002/ajmg.a.38610
    By:
    • Owen, Ceris I.;
    • Bowden, Ramsay;
    • Parker, Michael J.;
    • Patterson, Jo;
    • Patterson, Joan;
    • Price, Sue;
    • Sarkar, Ajoy;
    • Castle, Bruce;
    • Deshpande, Charulatha;
    • Splitt, Miranda;
    • Ghali, Neeti;
    • Dean, John;
    • Green, Andrew J.;
    • Crosby, Charlene;
    • Deciphering Developmental Disorders Study;
    • Tatton‐Brown, Katrina
    Publication type:
    Article
    2

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
    3

    The contribution of X-linked coding variation to severe developmental disorders.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20852-3
    By:
    • Martin, Hilary C.;
    • Gardner, Eugene J.;
    • Samocha, Kaitlin E.;
    • Kaplanis, Joanna;
    • Akawi, Nadia;
    • Sifrim, Alejandro;
    • Eberhardt, Ruth Y.;
    • Tavares, Ana Lisa Taylor;
    • Neville, Matthew D. C.;
    • Niemi, Mari E. K.;
    • Gallone, Giuseppe;
    • McRae, Jeremy;
    • Deciphering Developmental Disorders Study;
    • Borras, Silvia;
    • Clark, Caroline;
    • Dean, John;
    • Miedzybrodzka, Zosia;
    • Ross, Alison;
    • Tennant, Stephen;
    • Dabir, Tabib
    Publication type:
    Article