Cécile Saint‐Martin

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Kevin Colclough, Christine Bellanné‐Chantelot, Cécile Saint‐Martin et al. · Human Mutation · 2013 · 228 citations

Genetics, Genetic Epidemiology, Pathology +25

Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular Defects

Danièle Dubois‐Laforgue, Erika Cornu, Cécile Saint‐Martin et al. · Diabetes Care · 2017 · 165 citations · Full text

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An et al. · Journal of Medical Genetics · 2010 · 153 citations · Full text

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

Joseph Saliba, Cécile Saint‐Martin, Antonio Di Stefano et al. · Nature Genetics · 2015 · 130 citations · Full text

Hematological Malignancy, Somatic Variant, Genetics +7

<i>ABCC8</i> and <i>KCNJ11</i> molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

Christine Bellanné‐Chantelot, Cécile Saint‐Martin, M.J. Santiago Ribeiro et al. · Journal of Medical Genetics · 2010 · 114 citations · Full text