Anne-Sophie Lèbre

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Laurence Heidet, Stéphane Decramer, Audrey Pawtowski et al. · Clinical Journal of the American Society of Nephrology · 2010 · 298 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

Louise Galmiche, Valérie Serre, Marine Beinat et al. · Human Mutation · 2011 · 152 citations

Life Sciences, Genetics, Molecular Genetics +17

Natural history of Barth syndrome: a national cohort study of 22 patients

Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine et al. · Orphanet Journal of Rare Diseases · 2013 · 127 citations · Full text

Life Sciences, Cardiology, Genetics +12

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Hiroto Fujigasaki, Ishwar C. Verma, Russell L. Margolis et al. · Annals of Neurology · 2001 · 103 citations

Life Sciences, Genetics, Neurology +15