Sabine Sigaudy

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Déborah Scheffer, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 183 citations · Full text

Genetic Disorder, Genetics, Pathology +4

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 131 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, Corinne Stoetzel, M. C. Vincent et al. · Human Genetics · 2010 · 127 citations · Full text

Genetic Diseases, Bardet–biedl Syndrome Genes, Genetic Disorder +9

Bardet-Biedl Syndrome

O. Imhoff, Vincent Marion, Corinne Stoetzel et al. · Clinical Journal of the American Society of Nephrology · 2010 · 125 citations