Sophie Monnot

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

Sophie Monnot, Nadine Gigarel, David C. Samuels et al. · Human Mutation · 2010 · 115 citations · Full text

Genetic Testing, Dna, Cytogenetics +22

Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization

Sophie Monnot, Fabienne Giuliano, Christophe Massol et al. · American Journal of Medical Genetics Part A · 2008 · 83 citations

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis

Sophie Monnot, David C. Samuels, Laëtitia Hesters et al. · Human Molecular Genetics · 2013 · 79 citations

Dna, Genetics, Human Embryogenesis +22