Nathalie Marle

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

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphaël Carapito, Martina Konantz, Catherine Paillard et al. · Journal of Clinical Investigation · 2017 · 166 citations · Full text

Shwachman-diamond–like Features, Engineering, Genetics +17

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac et al. · Journal of Medical Genetics · 2012 · 123 citations

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Julien Thévenon, Patrick Callier, Joris Andrieux et al. · European Journal of Human Genetics · 2012 · 106 citations · Full text

Apraxia Of Speech, Developmental Biology, Genetic Disorder +15