Sarah Boissel

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx et al. · The American Journal of Human Genetics · 2009 · 401 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari, François Foulquier, Patrick Tarpey et al. · The American Journal of Human Genetics · 2008 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>MED23</i> Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

Satoru Hashimoto, Sarah Boissel, Mohammed Zarhrate et al. · Science · 2011 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel, Catherine Fallet‐Bianco, David Chitayat et al. · Genetics in Medicine · 2017 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio, Valérie Malan, Sarah Boissel et al. · European Journal of Human Genetics · 2009 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16