Article

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics - 8 Aug 2024

Rots Dmitrijs, Choufani Sanaa, Faundes Victor, Dingemans Alexander J M, Joss Shelagh, Foulds Nicola, Jones Elizabeth A, Stewart Sarah, Vasudevan Pradeep, Dabir Tabib, Park Soo-Mi, Jewell Rosalyn, Brown Natasha, Pais Lynn, Jacquemont Sébastien, Jizi Khadijé, Ravenswaaij-Arts Conny M A van, Kroes Hester Y, Stumpel Constance T R M, Ockeloen Charlotte W, Diets Illja J, Nizon Mathilde, Vincent Marie, Cogné Benjamin, Besnard Thomas, Kambouris Marios, Anderson Emily, Zackai Elaine H, McDougall Carey, Donoghue Sarah, O'Donnell-Luria Anne, Valivullah Zaheer, O'Leary Melanie, Srivastava Siddharth, Byers Heather, Leslie Nancy, Mazzola Sarah, Tiller George E, Vera Moin, Shen Joseph J, Boles Richard, Jain Vani, Brischoux-Boucher Elise, Kinning Esther, Simpson Brittany N, Giltay Jacques C, Harris Jacqueline, Keren Boris, Guimier Anne, Marijon Pierre, Vries Bert B A de, Motter Constance S, Mendelsohn Bryce A, Coffino Samantha, Gerkes Erica H, Afenjar Alexandra, Visconti Paola, Bacchelli Elena, Maestrini Elena, Delahaye-Duriez Andree, Gooch Catherine, Hendriks Yvonne, Adams Hieab, Thauvin-Robinet Christel, Josephi-Taylor Sarah, Bertoli Marta, Parker Michael J, Rutten Julie W, Caluseriu Oana, Vernon Hilary J, Kaziyev Jonah, Zhu Jia, Kremen Jessica, Frazier Zoe, Osika Hailey, Breault David, Nair Sreelata, Lewis Suzanne M E, Ceroni Fabiola, Viggiano Marta, Posar Annio, Brittain Helen, Giovanna Traficante, Giulia Gori, Quteineh Lina, Ha-Vinh Leuchter Russia, Zonneveld-Huijssoon Evelien, Mellado Cecilia, Marey Isabelle, Coudert Alicia, Aracena Alvarez Mariana Inés, Kennis Milou G P, Bouman Arianne, Roifman Maian, Amorós Rodríguez María Inmaculada, Ortigoza-Escobar Juan Dario, Vernimmen Vivian, Sinnema Margje, Pfundt Rolph, Brunner Han G, Vissers Lisenka E L M, Kleefstra Tjitske, Weksberg Rosanna, Banka Siddharth