Sophie Rondeau

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

FSHD1 and FSHD2 form a disease continuum

Sabrina Sacconi, Audrey Briand‐Suleau, Marilyn Gros et al. · Neurology · 2019 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carcinomas and is an independent prognostic marker at both mRNA and protein levels

Sophie Rondeau, Sophie Vacher, Leanne de Koning et al. · British Journal of Cancer · 2015 · 52 citations · Full text

Life Sciences, Molecular Biology, Oncology +17

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow et al. · Human Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17