Delphine Dupin‐Deguine

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Véronique Pingault, Virginie Bodereau, Viviane Baral et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

Flavie Ader, Pascal de Groote, Patricia Réant et al. · Clinical Genetics · 2019 · 108 citations

Medicine, Cardiology, Genetics +13

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

David Baux, Christel Vaché, Christophe Blanchet et al. · Scientific Reports · 2017 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre et al. · European Journal of Human Genetics · 2015 · 59 citations · Full text

Medicine, Genetics, Molecular Genetics +11

First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau, Marion Aubert‐Mucca, Felix Frémont et al. · Clinical Genetics · 2022 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +16