P. Lemay

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.

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.

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

M. Justice, V. Kaartinen, J. Engel, 2021, Blood advances.

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

J. D. Engel, M. Justice, V. Kaartinen, 2021, bioRxiv.

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels

G. Rouleau, P. Lemay, Z. Kibar, 2018, BMC Genetics.

Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs

G. Rouleau, P. Lemay, Z. Kibar, 2014, PloS one.

Rare deleterious variants in GRHL3 are associated with human spina bifida

G. Rouleau, A. Dionne‐Laporte, P. Lemay, 2017, Human mutation.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

G. Rouleau, A. Dionne‐Laporte, P. Lemay, 2018, Molecular genetics & genomic medicine.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.