François Lecoquierre

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 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier et al. · American Journal of Medical Genetics Part A · 2016 · 85 citations

Developmental Anomaly, Developmental Biology, Molecular Findings +13

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

Pascale Saugier-Véber, Florent Marguet, François Lecoquierre et al. · Acta Neuropathologica Communications · 2017 · 52 citations · Full text

Mpdz Gene, Pediatric Hydrocephalus, Brain Development +16

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kévin Cassinari, Sophie Coutant et al. · European Journal of Human Genetics · 2020 · 41 citations · Full text

Read Depth Information, Engineering, Data Science +8