Items where authors include "Gillentine, M.A."

Article

Hodgson, A.K.O. orcid.org/0009-0008-9281-578X, Baxandall, L., Aiyedun, D. et al. (12 more authors) (2025) Expanding the phenotypic spectrum of HNRNPU-related disorder, documenting the first familial presentation and comprehensive review. American Journal of Medical Genetics Part A. e64013. ISSN 1552-4825

Shafiq, T., Feng, J.L., Phillips, L. et al. (28 more authors) (2024) An expansion of the phenotype in individuals with SYNCRIP-related neurodevelopmental disorder. Rare, 2. 100052. ISSN 2950-0087

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297