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

STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics per 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 per 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 per 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 per 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 per 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

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome per Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, The DDD Study, Blair, E, Taylor, J, Stewart, H

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature per 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 per 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

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction per den Hoed, J, de Boer, E, Voisin, N, Dingemans, AJM, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, SM, Banka, S, Bena, FS, Ben-Zeev, B, Bonagura, VR, Bruel, A-L, Brunet, T, Brunner, HG, Chew, HB, Chrast, J, Cimbalistienė, L, Coon, H, DDD Study, Délot, EC, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, DA, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, YH, Hanebeck, J, Hehir-Kwa, JY, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, KL, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, AA, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila... per Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language per 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 per 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

Altres autors: “… DDD Study…”