Estelle Colin

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet et al. · The American Journal of Human Genetics · 2014 · 137 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12