Henri Margot

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

Henri Margot, Guilaine Boursier, Claire Duflos et al. · Genetics in Medicine · 2019 · 60 citations · Full text

Life Sciences, Immunology, Pathology +10

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

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné et al. · The American Journal of Human Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Oncology +13

Phenotypic spectrum of the recurrent <i>TRPM3</i> p.(<scp>Val837Met</scp>) substitution in seven individuals with global developmental delay and hypotonia

Matthew A. Lines, Paula Goldenberg, Ashley Wong et al. · American Journal of Medical Genetics Part A · 2022 · 21 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders

Birk Möller, Lena‐Luise Becker, Afshin Saffari et al. · Brain · 2024 · 18 citations · Full text

Medicine, Molecular Genetics, Neurology +17