Agnès Guichet

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

<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

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

Patrizia Amati‐Bonneau, Agnès Guichet, Aurélien Olichon et al. · Annals of Neurology · 2005 · 167 citations · Full text

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

Dominique Loiseau, Arnaud Chevrollier, Christophe Verny et al. · Annals of Neurology · 2007 · 155 citations