De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
KDM2A基因的新生突变会导致一种综合征性神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.100
doi:10.1016/j.ajhg.2025.12.004
Anderson, Eric N; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha V; Rajan, Deepa S; Schönnagel, Senta; Stals, Karen L; Donnelly, Deirdre; O'Sullivan, Siobhan; Mantovani, John F; Tan, Tiong Y; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N; Bonner, Devon E; Shankar, Suma P; Bernstein, Jonathan A; Cohen, Julie S; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M; Mullegama, Sureni V; Sanchez-Lara, Pedro A; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe, Sidney M Jr; Belles, Rebecca S; Bellus, Gary; Lichtenbelt, Klaske D; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad