Laurence Perrin

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Intellectual Impairment +13

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Essam Al Ageeli, Séverine Drunat, Catherine Delanöe et al. · European Journal of Medical Genetics · 2013 · 134 citations

Genetics, Pathology, New Cases +3

The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

Séverine Marcos, Julie Sarfati, Chrystel Leroy et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 86 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