Céline Huber

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 278 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève et al. · The American Journal of Human Genetics · 2009 · 255 citations · Full text

Genetic Disorder, Genetics, Short Rib-polydactyly Syndrome +4

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

Identification of mutations in CUL7 in 3-M syndrome

Céline Huber, Dora Dias‐Santagata, Anna Glaser et al. · Nature Genetics · 2005 · 172 citations

Genetic Disorder, Pathology, 3-M Syndrome +2

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

P Burlet, Céline Huber, Solange Bertrandy et al. · Human Molecular Genetics · 1998 · 147 citations