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European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.Ebiomedicine|July 5, 2025
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosisMatthew Lynch, Sophie Manoy, Peter D Sly, et al.Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 2