STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics od O'Brien, S, Ng-Cordell, E, Ddd Study, Astle, D, Scerif, G, Baker, K

STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics od Sinéad O’Brien, Elise Ng-Cordell, The DDD Study, Duncan E. Astle, Gaia Scerif, Kate Baker

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A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly od Pagnamenta, A, Murakami, Y, Anzilotti, C, Titheradge, H, Oates, A, Morton, J, DDD Study, Kinoshita, T, Kini, U, Taylor, J

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders od Pagnamenta, A, Murakami, Y, Taylor, J, Anzilotti, C, Howard, M, Miller, V, Johnson, D, Tadros, S, Mansour, S, Temple, I, Firth, R, Rosser, E, Harrison, R, Kerr, B, Popitsch, N, The DDD Study, Kinoshita, T, Taylor, J, Kini, U

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders od Wright, C, McRae, J, Clayton, S, Gallone, G, Aitken, S, FitzGerald, T, Jones, P, Prigmore, E, Rajan, D, Lord, J, Sifrim, A, Kelsell, R, Parker, M, Barrett, J, Hurles, M, FitzPatrick, R, Firth, H, on behalf of the DDD Study

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics od Bayat, A, Knaus, A, Juul, A, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, J, Josifova, D, Larsen, L, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P, Helbig, I, Kini, U, Møller, R, Ddd Study Group

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature od Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Héron, D, Nougues, M, Nava, C, Arsene, O, Shears, D, Taylor, J, Pagnamenta, A, Taylor, J, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, M, Busa, T, Roubertie, A, Van Den Born, M, Brischoux-Boucher, E, Koenig, M, Mignot, C, Ddd Study, Kini, U, Philippe, C

Clinical and molecular consequences of disease-associated de novo mutations in SATB2 od Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, S, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnugn, 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, M, Firth, H, Raymond, F, Kini, U, Nellaker, C, DDD Study, FitzPatrick, D

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language od Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau

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Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland od 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

Kolejni autorzy: “… DDD Study…”