Caroline Abadie

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 117 citations

Engineering, Genetics, Pathology +16

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study

Patrick R. Benusiglio, Sophie Giraud, Sophie Deveaux et al. · Orphanet Journal of Rare Diseases · 2014 · 103 citations · Full text

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

Laurent Castéra, Valentin Harter, Etienne Müller et al. · Genetics in Medicine · 2018 · 71 citations · Full text

Functional Genomics, Cancer Epidemiology, Molecular Epidemiology +15

Non-USH2A mutations in USH2 patients

Thomas Besnard, Christel Vaché, David Baux et al. · Human Mutation · 2011 · 64 citations

Truncated Protein Product, Mendelian Disorder, Gpr98 Mutations +13

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Lieske H. Schrijver, Antonis C Antoniou, Håkan Olsson et al. · American Journal of Obstetrics and Gynecology · 2021 · 56 citations · Full text