Nadège Calmels

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 554 citations · Full text

Obesity, Metabolic Syndrome, Childhood Obesity +9

The in vivo mitochondrial two-step maturation of human frataxin

Stéphane Schmucker, Manuela Argentini, Nadège Calmels et al. · Human Molecular Genetics · 2008 · 141 citations · Full text

Amino Acids, Molecular Biology, Human Frataxin +17

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Nadège Calmels, Elena Botta, Nan Jia et al. · Journal of Medical Genetics · 2018 · 78 citations · Full text

Genetic Compensation in a Human Genomic Disorder

Nadège Calmels, Pascale Saugier-Véber, Françoise Girard‐Lemaire et al. · New England Journal of Medicine · 2009 · 63 citations · Full text

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet et al. · Acta Neuropathologica · 2017 · 58 citations

Affected Female Carriers, Mendelian Disorder, Genetic Disorder +9