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American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.Pageof 12