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American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.Pageof 2