Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype von Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Kury, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes von Harris, E.L, Roy, V, Montagne, M, Rose, A.M.S, Livesey, H, Reijnders, M.R.F, Hobson, E, Sansbury, F.H, Willemsen, M.H, Pfundt, R, Warren, D, Long, V, Carr, I.M, Brunner, H.G, Sheridan, E.G, Firth, H.V, Lavigne, P, Poulter, J.A

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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders von Copeland, H, Low, K.J, Wynn, S.L, Ahmed, A, Arthur, V, Balasubramanian, M, Bennett, K, Berg, J, Bertoli, M, Bryson, L, Bucknall, C, Campbell, J, Chandler, K, Chauhan, J, Clarkson, A, Coles, R, Conti, H, Costello, P, Coupar, T, Craig, A, Dean, J, Dillon, A, Dixit, A, Drew, K, Eason, J, Forzano, F, Foulds, N, Gardham, A, Ghali, N, Green, A, Hanna, W, Harrison, R, Hegarty, M, Higgs, J, Holder, M, Irving, R, Jain, V, Johnson, K, Jolley, R, Jones, W.D, Jones, G, Joss, S, Kalinauskiene, R, Kanani, F, Kavanagh, K, Khan, M, Khan, N, Kivuva, E, Lahiri, N, Lakhani, N, Lampe, A, Lynch, S.A, Mansour, S, Marsden, A, Massey, H, McKee, S, Mohammed, S, Naik, S, Nesarajah, M, Newbury-Ecob, R, Osborne, F, Parker, M.J, Patterson, J, Pottinger, C, Prapa, M, Prescott, K, Quinn, S, Radley, J.A, Robart, S, Ross, A, Rosti, G, Sansbury, F.H, Sarkar, A, Searle, C, Shannon, N, Shears, D, Smithson, S, Stewart, H, Suri, M, Tadros, S, Theobald, R, Thomas, R, Tsoulaki, O, Vasudevan, P, Rodriguez, M.V, Vittery, E, Whyte, S, Woods, E, Wright, T, Zocche, D, Firth, H.V, Wright, C.F

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AHDC1 missense mutations in Xia-Gibbs syndrome von Khayat, M.M., Hu, J.H., Jiang, Y.Y., Li, H., Chander, V., Dawood, M., Hansen, A.W., Li, S.D., Friedman, J., Cross, L., Bijlsma, E.K., Ruivenkamp, C.A.L., Sansbury, F.H., Innis, J.W., O'Shea, J.O., Meng, Q.C., Rosenfeld, J.A., McWalter, K., Wangler, M.F., Lupski, J.R., Posey, J.E., Murdock, D., Gibbs, R.A.

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms von Wright, C.F, Quaife, N.M, Ramos-Hernández, L, Danecek, P, Ferla, M.P, Samocha, K.E, Kaplanis, J, Gardner, E.J, Eberhardt, R.Y, Chao, K.R, Karczewski, K.J, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, S.A, Morton, J.E.V, Pinz, H, Sansbury, F.H, Stewart, H, Zuccarelli, B.D, Genomics England Research Consortium, Cook, S.A, Taylor, J.C, Juusola, J, Retterer, K, Firth, H.V, Hurles, M.E, Lara-Pezzi, E, Barton, P.J.R, Whiffin, N

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype von Balasubramanian, M, Dingemans, A.J.M, Albaba, S, Richardson, R, Yates, T.M, Cox, H, Douzgou, S, Armstrong, R, Sansbury, F.H, Burke, K.B, Fry, A.E, Ragge, N, Sharif, S, Foster, A, De Sandre-Giovannoli, A, Elouej, S, Vasudevan, P, Mansour, S, Wilson, K, Stewart, H, Heide, S, Nava, C, Keren, B, Demirdas, S, Brooks, A.S, Vincent, M, Isidor, B, Küry, S, Schouten, M, Leenders, E, Chung, W.K, Haeringen, A.V, Scheffner, T, Debray, F.-G, White, S.M, Palafoll, M.I.V, Pfundt, R, Newbury-Ecob, R, Kleefstra, T

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype von Balasubramanian, M., Dingemans, A.J.M., Albaba, S., Richardson, R., Yates, T.M., Cox, H., Douzgou, S., Armstrong, R., Sansbury, F.H., Burke, K.B., Fry, A.E., Ragge, N., Sharif, S., Foster, A., Sandre-Giovannoli, A. de, Elouej, S., Vasudevan, P., Mansour, S., Wilson, K., Stewart, H., Heide, S., Nava, C., Keren, B., Demirdas, S., Brooks, A.S., Vincent, M., Isidor, B., Kury, S., Schouten, M., Leenders, E., Chung, W.K., Haeringen, A. van, Scheffner, T., Debray, F.G., White, S.M., Palafoll, M.I.V., Pfundt, R., Newbury-Ecob, R., Kleefstra, T.

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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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