Alexandre Dionne‐Laporte

发表

Increased exonic de novo mutation rate in individuals with schizophrenia

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

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

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

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

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2016, American journal of human genetics.

De Novo Mutations in Moderate or Severe Intellectual Disability

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

The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus)

Stephen M. Mount, Danny W. Rice, B. Haas, 2008, Nature.

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

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

Genome-wide characterization of copy number variants in epilepsy patients

Jean Monlong, G. Bourque, G. Rouleau, 2017, bioRxiv.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

J. Rapoport, G. Rouleau, C. Laurent, 2018, Molecular Psychiatry.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Elizabeth L. Fieg, F. Charron, G. Rouleau, 2019, American journal of human genetics.

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction

J. Lacaille, M. Danik, A. Dionne‐Laporte, 2023, eNeuro.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

Y. Dauvilliers, G. Rouleau, D. Spiegelman, 2016, Neurobiology of Aging.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

G. Rouleau, A. Dionne‐Laporte, Y. Trakadis, 2020, BMC Psychiatry.

Epistasis analysis links immune cascades and cerebral amyloidosis

S. Gauthier, J. Poirier, P. Lemay, 2015, Journal of Neuroinflammation.

Exome sequencing identifies FUS mutations as a cause of essential tremor.

G. Rouleau, J. Rivière, M. Panisset, 2012, American journal of human genetics.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

S. Bens, R. Siebert, A. Mes-Masson, 2017, Cancer research.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

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

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

V. Meininger, F. Salachas, G. Rouleau, 2012, Archives of neurology.

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

G. Rouleau, A. Dionne‐Laporte, G. Patrinos, 2015, European journal of medical genetics.

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

Powell Patrick Cheng Tan, P. Pavlidis, S. Rogic, 2019, Clinical genetics.

SYNE1 mutations cause autosomal‐recessive ataxia with retained reflexes in Brazilian patients

G. Rouleau, A. Dionne‐Laporte, J. Pedroso, 2016, Movement disorders : official journal of the Movement Disorder Society.

Draft genome sequence of the rubber tree Hevea brasiliensis

Fui Ling Ng, Siti Suriawati Badai, M. Alam, 2013, BMC Genomics.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

P. Awadalla, S. Moss, G. Rouleau, 2014, EMBO reports.

Exome sequencing identifies FUS mutations as a cause of essential tremor.

G. Rouleau, J. Rivière, M. Panisset, 2012, American journal of human genetics.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

G. Rouleau, A. Dionne‐Laporte, G. Turecki, 2019, PloS one.

Screening of novel restless legs syndrome–associated genes in French-Canadian families

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2018, Neurology: Genetics.

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019, Journal of Human Genetics.

SPTAN 1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019 .

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

W. Chung, K. Marder, S. Fahn, 2019, Movement disorders : official journal of the Movement Disorder Society.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2014, American journal of human genetics.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human 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 CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

O. Suchowersky, G. Rouleau, P. Drapeau, 2016, American journal of human genetics.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.

Exome sequencing reveals SPG11 mutations causing juvenile ALS

G. Rouleau, A. Dionne‐Laporte, P. Dion, 2012, Neurobiology of Aging.

De novo variants in sporadic cases of childhood onset schizophrenia

J. Rapoport, K. Ahn, R. Joober, 2015, European Journal of Human Genetics.

Copy-Number Variants in The Contactin-5 Gene Are a Potential Risk Factor for Autism Spectrum Disorder

T. Banaschewski, A. Bokde, H. Lemaître, 2021, Research in Autism Spectrum Disorders.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Jean-Pierre Bouchard, Mamede de Carvalho, Denis Brunet, 2016, Neurobiology of Aging.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.