Boston Children's Hospital

Expanding the phenotypic spectrum of FGF12-epilepsy—does prompt precision therapy affect outcomes? (2026) Arkush L, Karandasheva K, Ouellet F, D’Gama AM, Rosen Sheidley B, Liang NS, Chau V, et al. Journal article Expanding the ABCA2-associated neurodevelopmental phenotype (2026) Oja KT, Reinson K, Ilisson M, Örd D, Wojcik MH, Seaby EG, Wittmann BM, et al. Journal article Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs (2026) Zeyer KA, Derks TG, Langeveld M, Murphy E, Rossi A, Spiekerkoetter U, Wagenmakers M, et al. Journal article Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement (2026) Galassi Deforie V, Maroofian R, Karagoz I, Godwin A, Al Sheikh E, Gestri G, Zaki MS, et al. Journal article Towards Clinical Translation of Intravoxel Incoherent Motion MRI: Acquisition and Analysis Consensus Recommendations (2026) Sigmund EE, Rauh SS, Iima M, Federau C, Hernando D, Jalnefjord O, Jansen JF, et al. Journal article Noise in the diagnosis of epilepsy by experts (2026) Nascimento FA, McLaren JR, Zhao W, Katyal R, Sheikh IS, Kong WY, Aljaafari D, et al. Journal article Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025) Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, et al. Journal article Polygenic prediction of body mass index and obesity through the life course and across ancestries (2025) Smit RA, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, Yengo L, et al. Journal article Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study (2025) Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Barić I, de Boer L, et al. Journal article Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs (2025) Bizzotto S, Talukdar M, Stronge EA, Ramirez RB, Yang Y, Huang AY, Hu Q, et al. Journal article