A. Dionne‐Laporte

发表

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

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

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.

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

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

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

A. Durr, C. Depienne, A. Brice, 2014, 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.

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.

Increased exonic de novo mutation rate in individuals with schizophrenia

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

Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males

J. Rapoport, R. Joober, G. Rouleau, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Draft genome sequence of the rubber tree Hevea brasiliensis

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

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

P. Beauchemin, G. Rouleau, A. Dionne‐Laporte, 2014, Cerebellum & Ataxias.

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.

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

Jean Monlong, G. Bourque, G. Rouleau, 2018 .

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

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2016, 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.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

M. Lassonde, G. Rouleau, A. Dionne‐Laporte, 2015, European Journal of Human Genetics.

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.

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.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human genetics.

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.

Yongjun Zhao, A. Karsan, J. Parker, 2018, Clinical biochemistry.

Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non‐syndromic intellectual disability

G. Rouleau, G. Rouleau, F. Hamdan, 2013, Clinical genetics.

Triple A syndrome presenting as complicated hereditary spastic paraplegia

L. Hazrati, G. Rouleau, A. Dionne‐Laporte, 2018, Molecular genetics & genomic medicine.

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.

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 .

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

Powell Patrick Cheng Tan, Yingrui Li, P. Pavlidis, 2019, Clinical genetics.

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

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

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.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

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

De novo variants in sporadic cases of childhood onset schizophrenia

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

Genetic architecture and adaptations of Nunavik Inuit

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2019, Proceedings of the National Academy of Sciences.

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

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

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

M. Lawton, G. Rouleau, B. Walcott, 2018, Human Genome Variation.

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

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

Epistasis analysis links immune cascades and cerebral amyloidosis

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

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 characterization of copy number variants in epilepsy patients

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

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

R. Gibbs, R. Hennekam, A. Dionne‐Laporte, 2016, Journal of Human Genetics.

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

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

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.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

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

Rare deleterious variants in GRHL3 are associated with human spina bifida

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

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.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2018, BMC Pediatrics.

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

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

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.

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.

Exome sequencing reveals SPG11 mutations causing juvenile ALS

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

Oligogenicity, C9orf72 expansion, and variant severity in ALS

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2020, neurogenetics.

Epistasis analysis links immune cascades and cerebral amyloidosis

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

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

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019, 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, A. Dionne‐Laporte, 2016, Neurobiology of Aging.

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

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

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

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

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

Y. Dauvilliers, G. Rouleau, A. Dionne‐Laporte, 2017, Neurobiology of Aging.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

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

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

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