Dominique Martin‐Coignard

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Virpi Leppä, Stephanie N. Kravitz, Joris Andrieux et al. · The American Journal of Human Genetics · 2016 · 228 citations · Full text

Rare Inherited, Genetic Disorder, Genetics +6

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

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 205 citations · Full text

Developmental Biology, Brain Development, Developmental Genetics +8

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Bertrand Isidor, Pierre Lindenbaum, Olivier Pichon et al. · Nature Genetics · 2011 · 193 citations

Bone Disease, Last Exon, Rare Skeletal Disorder +8