Olivier Patat

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Olivier Patat, A. Pagin, Aurore Siegfried et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung et al. · The American Journal of Human Genetics · 2023 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +14

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane, Cécilia Marelli, Claire Guissart et al. · Genetics in Medicine · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17