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.

Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care Situation
Kokaly N, Guerreiro H, Bredow J, Dreha-Kulaczewski S, Ohlenbusch A, Köhler W, Reinhardt T, Schön G, Volk A, Sigel H, Bley A
J CLIN MED. 2025;14(19):.

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: 10.10.2025 - 04:58 Uhr