D. Spiegelman

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.

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

G. Rouleau, J. Rivière, M. Panisset, 2012, 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.

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Alexander R. Griffing, A. Addington, J. Rapoport, 2010, American journal of human genetics.

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.

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.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

B. McConkey, V. Meininger, F. Salachas, 2008, Nature Genetics.

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

S. Fahn, C. Waters, Y. Dauvilliers, 2020, medRxiv.

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

G. Deuschl, W. Poewe, D. Berg, 2020, Movement disorders : official journal of the Movement Disorder Society.

Multi-omics integration of the phenome, transcriptome and genome highlights genes and pathways relevant to essential tremor

A. Rajput, G. Rouleau, D. Spiegelman, 2019, bioRxiv.

Questioning the association of the STMN2 dinucleotide repeat with ALS

B. Weisburd, G. Rouleau, S. Farhan, 2022, medRxiv.

Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project

G. Rouleau, D. Spiegelman, P. Dion, 2020, Movement disorders : official journal of the Movement Disorder Society.

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population

J. Ragoussis, C. Greenwood, A. Mes-Masson, 2022, Cancers.

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

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

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.

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

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

Fine mapping of the HLA locus in Parkinson’s disease in Europeans

C. Blauwendraat, E. Mignot, M. Toft, 2020, medRxiv.

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, Frontiers in Genetics.

Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

G. Rouleau, D. Spiegelman, D. Rochefort, 2019, bioRxiv.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2021, Movement disorders : official journal of the Movement Disorder Society.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

A. Desautels, B. Boeve, T. Ferman, 2018, Movement disorders : official journal of the Movement Disorder Society.

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.

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease

Thomas M. Durcan, C. Blauwendraat, O. Monchi, 2022, medRxiv.

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.

Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.

P. Pástor, A. Rajput, G. Rouleau, 2020, Brain : a journal of neurology.

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.

W. Oertel, G. Plazzi, R. Postuma, 2018, Parkinsonism & related disorders.

Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

S. Fahn, C. Waters, Y. Dauvilliers, 2020, medRxiv.

A comprehensive analysis of dominant and recessive parkinsonism genes in REM sleep behavior disorder

A. Desautels, B. Boeve, G. Gigli, 2020 .

Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

R. Postuma, J. Montplaisir, B. Högl, 2017, Brain : a journal of neurology.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

G. Rouleau, D. Spiegelman, Z. Kibar, 2022, Thyroid : official journal of the American Thyroid Association.

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.

W. Chung, K. Marder, S. Fahn, 2019, European journal of medical genetics.

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.

Rare and common variant analyses of amyotrophic lateral sclerosis in the French-Canadian genome

G. Rouleau, S. Farhan, D. Spiegelman, 2022, medRxiv.

Triple A syndrome presenting as complicated hereditary spastic paraplegia

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

Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

B. Weisburd, G. Rouleau, S. Farhan, 2022, Neurology. Genetics.

Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent

D. Krainc, C. Waters, Baorong Zhang, 2022, Neurobiology of Aging.

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 .

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

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

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

L. DeLisi, J. Rapoport, E. Fombonne, 2011, Translational Psychiatry.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

G. Rouleau, J. Trempe, D. Spiegelman, 2020, Molecular genetics & genomic medicine.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

M. Alda, G. Rouleau, D. Spiegelman, 2013, Genome.

Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study

D. Spiegelman, P. Dion, G. Rouleau, 2022, BMC Medicine.

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

A. Desautels, J. Montplaisir, G. Rouleau, 2015, Sleep medicine.

NPC1 variants are not associated with Parkinson’s disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts

A. Desautels, B. Boeve, G. Gigli, 2020, Neurobiology of Aging.

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, 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.

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

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

De novo variants in sporadic cases of childhood onset schizophrenia

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

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

Edouard Henrion, Julie Hussin, Carlos D. Bustamante, 2011, PLoS genetics.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

E. Fombonne, J. Lacaille, F. Dubeau, 2009, Annals of neurology.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Marie-Pierre Dubé, Christian Néri, Marie-Odile Krebs, 2010, Proceedings of the National Academy of Sciences.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

A. Addington, L. DeLisi, J. Rapoport, 2009, The New England journal of medicine.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Laurent Mottron, Ann Marie Craig, Marie-Odile Krebs, 2011, Human Genetics.

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

A. Desautels, G. Plazzi, R. Postuma, 2019, Annals of neurology.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

J. Lacaille, G. Rouleau, N. Matsumoto, 2012, 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.

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

E. Eichler, M. Kay, A. Gitler, 2020, American journal of human genetics.

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.

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

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

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

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

Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder

A. Desautels, W. Oertel, B. Boeve, 2021, Neurology.

Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder

A. Desautels, W. Oertel, B. Boeve, 2020, medRxiv.

A survey of the methods for the characterization of microbial consortia and communities.

Dan Spiegelman, D. Spiegelman, C. Greer, 2005, Canadian journal of microbiology.

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.

Novel de novo SHANK3 mutation in autistic patients

Laurent Mottron, Pierre Drapeau, Dan Spiegelman, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genetic, structural and clinical analysis of spastic paraplegia 4

M. Tarnopolsky, G. Rouleau, O. Suchowersky, 2021, medRxiv.

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

L. DeLisi, J. Rapoport, E. Fombonne, 2010, Biological Psychiatry.

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.

HLA in isolated REM sleep behavior disorder and Lewy body dementia

Sonja W. Scholz, Zalak V. Shah, A. Desautels, 2023, medRxiv.

Rare deleterious variants in GRHL3 are associated with human spina bifida

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

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Yves Dauvilliers, Edward A. Fon, Guy A. Rouleau, 2018, Neurobiology of Aging.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

A. Rajput, G. Rouleau, M. Panisset, 2018, Molecular Neurobiology.

Combination of radiation therapy, bempegaldesleukin, and checkpoint blockade eradicates advanced solid tumors and metastases in mice

Amy K. Erbe, D. Spiegelman, W. Overwijk, 2021, Journal for ImmunoTherapy of Cancer.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

A. Rajput, G. Rouleau, M. Panisset, 2017, Movement disorders : official journal of the Movement Disorder Society.

Association of rare variants in ARSA with Parkinson’s disease

O. Monchi, S. Fahn, Y. Dauvilliers, 2023, medRxiv.

LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease

S. Fahn, S. Sardi, D. Spiegelman, 2020, Neurobiology of Aging.

Variants in the Niemann–Pick type C gene NPC1 are not associated with Parkinson's disease

O. Monchi, S. Fahn, C. Waters, 2020, Neurobiology of Aging.

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

A. Desautels, J. Montplaisir, S. Fahn, 2020, Neurology: Genetics.

Analysis of common and rare VPS13C variants in late onset Parkinson disease

A. Desautels, J. Montplaisir, S. Fahn, 2019 .

Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases

Trevor J Pugh, J. Ragoussis, C. Greenwood, 2023, Frontiers in Oncology.

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.

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

R. Joober, G. Rouleau, D. Spiegelman, 2019, Nature Communications.

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.

Oligogenicity, C9orf72 expansion, and variant severity in ALS

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

Genetic, structural and clinical analysis of spastic paraplegia 4.

M. Tarnopolsky, O. Suchowersky, G. Rouleau, 2022, Parkinsonism & related disorders.

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

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

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2020, medRxiv.

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, European Journal of Human Genetics.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

C. Greenwood, M. Alda, G. Rouleau, 2018, Molecular Psychiatry.

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

O. Monchi, R. Postuma, S. Fahn, 2020, Neurobiology of Aging.

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

O. Monchi, R. Postuma, S. Fahn, 2020, Neurobiology of Aging.

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder

A. Desautels, W. Oertel, B. Boeve, 2020, Movement disorders : official journal of the Movement Disorder Society.

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

Y. Dauvilliers, G. Rouleau, A. Dionne‐Laporte, 2016, Neurobiology of Aging.

Common and rare GCH1 variants are associated with Parkinson's disease

O. Monchi, S. Fahn, Y. Dauvilliers, 2019, 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.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

J. Vincent, M. Rafiq, L. Mottron, 2015, BMC Medical Genetics.

Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.

A. Desautels, W. Oertel, B. Boeve, 2021, Journal of Parkinson's disease.

Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder

A. Desautels, W. Oertel, B. Boeve, 2021, medRxiv.

The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies

R. Postuma, J. Trempe, D. Spiegelman, 2018, Clinical genetics.

HLA in isolated REM sleep behavior disorder and Lewy body dementia.

Sonja W. Scholz, Zalak V. Shah, A. Desautels, 2023, Annals of clinical and translational neurology.

Genetic and molecular analyses of candidate germline BRIP1/FANCJ variants implicated in breast and ovarian cancer

J. Ragoussis, A. Mes-Masson, D. Provencher, 2023, medRxiv.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

A. Rajput, G. Rouleau, M. Panisset, 2018, Molecular Neurobiology.

Fine mapping of the HLA locus in Parkinson’s disease in Europeans

C. Blauwendraat, E. Mignot, M. Toft, 2021, npj Parkinson's Disease.

Association of Rare Variants in ARSA with Parkinson's Disease.

O. Monchi, S. Fahn, Y. Dauvilliers, 2023, Movement disorders : official journal of the Movement Disorder Society.

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.

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

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

Multi-tissue probabilistic fine-mapping of transcriptome-wide association study identifies cis-regulated genes for miserableness

G. Rouleau, D. Spiegelman, P. Dion, 2019, bioRxiv.

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

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

Generation of Novel Immunocompetent Mouse Cell Lines to Model Experimental Metastasis of High-Risk Neuroblastoma

Amy K. Erbe, D. Spiegelman, L. Schneper, 2023, Cancers.

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

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

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

G. Rouleau, D. Spiegelman, W. Camu, 2011, Archives of neurology.

The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

Thomas M. Durcan, O. Monchi, T. Goiran, 2024, Research square.

Factors impacting the efficacy of the in-situ vaccine with CpG and OX40 agonist

Amy K. Erbe, D. Spiegelman, Z. Morris, 2023, Cancer Immunology, Immunotherapy.