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American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.American Journal of Human Genetics|November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsHadia Hijazi, Linda M Reis, Davut Pehlivan, et al.The Journal of Clinical Investigation|July 3, 2025
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephalyLei Ji, Jin Yan, Nicole A Losurdo, et al.European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.Pageof 3