Philippine Garret

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

P. Vabres, Arthur Sorlin, Stanislav S. Kholmanskikh et al. · Nature Genetics · 2019 · 44 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Report of the first patient with a homozygous <i>OTUD7A</i> variant responsible for epileptic encephalopathy and related proteasome dysfunction

Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq et al. · Clinical Genetics · 2020 · 31 citations

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

François Lecoquierre, Yannis Duffourd, Antonio Vitobello et al. · Genetics in Medicine · 2019 · 28 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +11

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Robert Olaso et al. · European Journal of Human Genetics · 2021 · 21 citations · Full text

Sequencing, Next-generation Sequencing, Pediatric Intensive Care +11

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Ange‐Line Bruel, Antonio Vitobello, Frédéric Tran Mau‐Them et al. · Genetics in Medicine · 2018 · 19 citations · Full text

New Genes, Rare Diseases, Biomedical Data Integration +11