Charles Marcaillou

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

Éric Letouzé, Cosimo Martinelli, Céline Loriot et al. · Cancer Cell · 2013 · 768 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 227 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells

Lisa Boucret, Juan Manuel Chao de la Barca, Catherine Morinière et al. · Human Reproduction · 2015 · 191 citations · Full text

Medicine, Gynecology, Physiology +16

Functional variants of POC5 identified in patients with idiopathic scoliosis

Patricia Margaritte‐Jeannin, Jean‐Claude Bernard, Eudéline Alix et al. · Journal of Clinical Investigation · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud et al. · European Journal of Human Genetics · 2016 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13