Jacques L Michaud

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Haiyan Jiang, Mark E Samuels, Makoto Matsuoka, 2011, Nature Genetics.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Guillaume Bourque, Guy Rouleau, Dan Spiegelman, 2018, PLoS genetics.

Loss-of-function de novo mutations play an important role in severe human neural tube defects

Guy A Rouleau, Dan Spiegelman, G. Rouleau, 2015, Journal of Medical Genetics.

Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome

Kym M Boycott, Jacek Majewski, Mark E Samuels, 2011, Human mutation.