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Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M; Semina, Elena V; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), pp. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013
Kortüm, Fanny; Jamra, Rami Abou; Alawi, Malik; Berry, Susan A; Borck, Guntram; Helbig, Katherine L; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R; Kutsche, Kerstin (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics, 26(5), pp. 695-708. Nature Publishing Group 10.1038/s41431-018-0098-2
Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; ... (2017). Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A, 173(8), pp. 2108-2125. Wiley-Liss 10.1002/ajmg.a.38279
