Clarisse Baumann

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

Life Sciences, Genetics, Molecular Biology +11

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations

Life Sciences, Genetics, Molecular Genetics +11

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot et al. · Journal of Medical Genetics · 2007 · 256 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maı̈moun, Pascal Philibert, B. Cammas et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 213 citations

Medicine, Endocrinology, Genetics +17