Publications by authors named "T Courtin"

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Samuel M Bradbrook, Gail Graham, Melissa T Carter, Maria Kibaek, Christina Fagerberg, Thomas Courtin

Am J Med Genet A· January 2026

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Thomas Courtin

Am J Hum Genet· December 2025

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie

Am J Hum Genet· November 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Thomas Courtin

Genome Med· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Thomas Courtin

medRxiv· September 2025

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