Véronique David

Insulin resistance–associated hepatic iron overload

Michel-Henry Mendler, Bruno Turlin, Romain Moirand et al. · Gastroenterology · 1999 · 505 citations

Insulin Resistance, Metabolic Syndrome, Hepatology +11

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 220 citations · Full text

Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

Jacqueline Milet, Valérie Déhais, Catherine Bourgain et al. · The American Journal of Human Genetics · 2007 · 135 citations · Full text

Heme Homeostasis, Genetics, Hematology +7

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

Anne Marie Jouanolle, Patricia Fergelot, Gw x E nola Gandon et al. · Human Genetics · 1997 · 117 citations

Cytogenetics, Medicine, Genetics +8

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Virginie Scotet, Marc De Braekeleer, Michel Roussey et al. · The Lancet · 2000 · 111 citations

Early Diagnosis, Neonatal Screening, Newborn Screening +8