Brigitte Simon‐Bouy

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Étienne Mornet, Alice Yvard, A. Taillandier et al. · Annals of Human Genetics · 2011 · 228 citations

Parasitic Disease, Genetics, Genetic Epidemiology +17

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous‐Benailly, Jelena Martinović, Marie-Claire Gübler et al. · The American Journal of Human Genetics · 2005 · 136 citations · Full text

Developmental Anomaly, Pediatrics, Antenatal Presentation

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Christel Thauvin‐Robinet, À. Munck, Frédéric Huet et al. · Journal of Medical Genetics · 2009 · 126 citations · Full text

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

Étienne Mornet, A. Taillandier, S Peyramaure et al. · European Journal of Human Genetics · 1998 · 124 citations · Full text

Biology, Genetic Disorder, Genetics +9