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

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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

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

Other Authors: “… DDD Study…”