Sandra Mercier

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 218 citations · Full text

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 107 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Mendelian Disorder +6

LIS1-Related Isolated Lissencephaly

Yoann Saillour, Nathalie Carion, Chloé Quēlin et al. · Archives of Neurology · 2009 · 95 citations · Full text

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Patrizia Noris, Nicole Schlegel, Catherine Klersy et al. · Haematologica · 2014 · 76 citations · Full text

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre, Véronique Abadie, Tania Attié‐Bitach et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 75 citations · Full text