Laurence Faivre

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Chantal Stheneur, Laurence Faivre, Gwenaëlle Collod‐Béroud et al. · Pediatric Research · 2010 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Search for the best indicators for the presence of a <i>VPS13B</i> gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Salima El Chehadeh, Bernard Aral, Nadège Gigot et al. · Journal of Medical Genetics · 2010 · 40 citations

Life Sciences, Genetics, Molecular Genetics +13