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Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
