Arnold Munnich

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

Pierre Rustin, Jürgen‐Christoph von Kleist-Retzow, Karine Chantrel-Groussard et al. · The Lancet · 1999 · 350 citations

Cardiomyopathy, Heart Failure, Cardiovascular Disease +5

Mutant WD-repeat protein in triple-A syndrome

A Tullio-Pelet, Rémi Salomon, S. Hadj‐Rabia et al. · Nature Genetics · 2000 · 313 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

M-L Jacquemont, Damien Sanlaville, Richard Redon et al. · Journal of Medical Genetics · 2006 · 304 citations · Full text

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

Josseline Kaplan, S. Gerber, Dominique Larget‐Piet et al. · Nature Genetics · 1993 · 176 citations

Short Arm, Fundus Flavimaculatus, Mendelian Disorder +9

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud Touraine, Tania Attié‐Bitach, E. Manceau et al. · The American Journal of Human Genetics · 2000 · 166 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Mendelian Disorder +10