De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Anderson E, Drukewitz S, Kour S, Chimata A, Rajan D, Schönnagel S, Stals K, Donnelly D, O'Sullivan S, Mantovani J, Tan T, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter J, Bonner D, Shankar S, Bernstein J, Cohen J, Comi A, Carere D, Dyer L, Mullegama S, Sanchez-Lara P, Grand K, Kim H, Ben-Mahmoud A, Gospe S, Belles R, Bellus G, Lichtenbelt K, Oegema R, Rauch A, Ivanovski I, Mau-Them F, Garde A, Rabin R, Pappas J, Bley A, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H, Lemke J, Jamra R, Hentschel J, Mefford H, Singh A, Pandey U, Platzer K
medRxiv. 2025.

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend E, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R
HUM GENE THER. 2025;36(1-2):45-56.

Letzte Aktualisierung aus dem FIS: 18.09.2025 - 00:33 Uhr