Laurence Bonhomme‐Faivre

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 364 citations · Full text

Restrictive Dermopathy, Genetics, Nuclear Lamina +17

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Laurence Bonhomme‐Faivre, Philippe Guardiola, Cathryn M. Lewis et al. · PubMed · 2000 · 216 citations

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb et al. · The American Journal of Human Genetics · 2013 · 199 citations · Full text

Metabolic Syndrome, Genetics, Diabetes +3

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

Gilles Millat, Patrice Bouvagnet, Philippe Chevalier et al. · European Journal of Medical Genetics · 2010 · 160 citations

Cardiomyopathy, Unrelated Patients, Cardiovascular Disease +9

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

Gilles Millat, Patrice Bouvagnet, Philippe Chevalier et al. · European Journal of Medical Genetics · 2011 · 110 citations

Cardiomyopathy, Heart Failure, Unrelated Patients +10