Patrick Callier

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Loïc de Pontual, Evelyn Yao, Patrick Callier et al. · Nature Genetics · 2011 · 306 citations · Full text

Developmental Biology, Growth Defects, Human Growth +9

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

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

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb et al. · The American Journal of Human Genetics · 2013 · 199 citations · Full text

Metabolic Syndrome, Genetics, Diabetes +3