Elise Brischoux‐Boucher

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar, Sabrina Corrêa da Costa, Inès Braham et al. · EBioMedicine · 2022 · 83 citations · Full text

<scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle et al. · Clinical Genetics · 2020 · 71 citations · Full text

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot, Guilaine Boursier, Claire Duflos et al. · Genetics in Medicine · 2019 · 57 citations · Full text

Primary Immunodeficiency, Rheumatology, Registry Study +12

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faúndes, Stephanie Goh, Rhoda Akilapa et al. · Genetics in Medicine · 2021 · 57 citations · Full text

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 35 citations · Full text