Sibling recurrence of total anomalous pulmonary venous drainage von McDermott, J.H, Study, D.D.D, Clayton-Smith, J

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Mosaicism in ASXL3-related syndrome: Description of five patients from three families von Schirwani, Schaida, Hauser, Natalie, Platt, Anna, Punj, Sumit, Prescott, Katrina, Canham, Natalie, study, D.D.D., Mansour, Sahar, Balasubramanian, Meena

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The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum von McDermott, J.H., Study, D.D.D., Clayton-Smith, J., Briggs, T.A.

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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay von Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis von Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, McDonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

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Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants von Lam, Z, Albaba, S, Study, D.D.D, Balasubramanian, M

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De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus von Green, C, Willoughby, J, Study, D.D.D, Balasubramanian, M

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Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant von Yates, T.M, Ng, O.-H, Offiah, A.C, Willoughby, J, Berg, J.N, Study, D.D.D, Johnson, D.S

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Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype von Radley, J.A, O'Sullivan, R.B.G, Turton, S.E, Cox, H, Vogt, J, Morton, J, Jones, E, Smithson, S, Lachlan, K, Rankin, J, Clayton-Smith, J, Willoughby, J, Elmslie, F.F, Sansbury, F.H, Cooper, N, Study, D.D.D, Balasubramanian, M

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De Novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism von Zawerton, A, Yao, B, Yeager, J.P, Pippucci, T, Haseeb, A, Smith, J, Wischmann, L, Kuhl, S.J, Dean, J.C.S, Pilz, D.T, Holder, S.E, Study, D.D.D, University of Washington Center, M.G, McNeill, A, Graziano, C, Lefebvre, V

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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literatur... von Balasubramanian, M, Willoughby, J, Fry, A.E, Weber, A, Firth, H.V, Deshpande, C, Berg, J.N, Chandler, K, Metcalfe, K.A, Lam, W, Pilz, D, Tomkins, S, Study, D.D.D

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Quantifying the contribution of recessive coding variation to developmental disorders von Martin, H.C, Jones, W.D, McIntyre, R, Sanchez-Andrade, G, Sanderson, M, Stephenson, J.D, Jones, C.P, Handsaker, J, Gallone, G, Bruntraeger, M, McRae, J.F, Prigmore, E, Short, P, Niemi, M, Kaplanis, J, Radford, E.J, Akavvi, N, Balasubramanian, M, Dean, J, Horton, R, Hulbert, A, Johnson, D.S, Johnson, K, Kumar, D, Lynch, S.A, Mehta, S.G, Morton, J, Parker, M.J, Splitt, M, Turnpenny, P.D, Vasudevan, P.C, Wright, M, Bassett, A, Gerety, S.S, Wright, C.F, FitzPatrick, D.R, Firth, H.V, Hurles, M.E, Barrett, J.C, Study, D.D.D

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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta von Balasubramanian, M, Hurst, J, Brown, S, Bishop, N.J, Arundel, P, DeVile, C, Pollitt, R.C, Crooks, L, Longman, D, Caceres, J.F, Shackley, F, Connolly, S, Payne, J.H, Offiah, A.C, Hughes, D, Study, D.D.D, Parker, M.J, Hide, W, Skerry, T.M

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