O. Diallo

发表

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.

De Novo Mutations in Moderate or Severe Intellectual Disability

Edouard Henrion, Guy A. Rouleau, Fadi F. Hamdan, 2014, PLoS genetics.

Increased exonic de novo mutation rate in individuals with schizophrenia

S. Lok, A. Tong, B. Millet, 2011, 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.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

R. Huganir, J. Lacaille, G. Rouleau, 2011, American journal of human genetics.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

J L Rapoport, A. Addington, L. DeLisi, 2011, Molecular Psychiatry.

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2015, PloS one.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

G. Rouleau, D. Spiegelman, É. Henrion, 2011, Archives of neurology.

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study

Yongjun Zhao, A. Karsan, J. Parker, 2019, European Journal of Human Genetics.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

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