Judith St-Onge

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

Laurent Mottron, Guy A Rouleau, Eric Fombonne, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

Laurent Mottron, Fabio Benfenati, Flavia Valtorta, 2011, Human molecular genetics.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.