Concepedia
Statistics
Publications
17
Citations
1.2K
H-Index
15
Active since
2004
Affiliations
Hôpital Necker-Enfants Malades(Current)
Inserm
Université Paris Cité
Assistance Publique – Hôpitaux de Paris
Délégation Paris 5
Sophie Monnot is an author at Hôpital Necker-Enfants Malades specializing in genetics, human genetics, and life sciences.
Publications per year
2004–2023
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 · 224 citations · Full text
Life Sciences, Genetics, Molecular Genetics +8
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 · 140 citations · Full text
Life Sciences, Genetics, Neuroscience +10
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 · 117 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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
Life Sciences, Genetics, Molecular Genetics +14
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 · 80 citations
Life Sciences, Developmental Biology, Genetics +17
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