S. Girard

发表

Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

Benjamin D. Greenberg, Ying Wang, Naomi R. Wray, 2013, PLoS genetics.

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

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

Increased exonic de novo mutation rate in individuals with schizophrenia

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

Mutations in DCC Cause Congenital Mirror Movements

F. Charron, M. Dubé, G. Rouleau, 2010, Science.

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.

Mubritinib Targets the Electron Transport Chain Complex I and Reveals the Landscape of OXPHOS Dependency in Acute Myeloid Leukemia.

Mike Tyers, Sébastien Lemieux, Jean-François Spinella, 2019, Cancer cell.

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

P. Awadalla, D. Sinnett, G. Rouleau, 2013, PLoS 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.

Genome-wide association study of Tourette Syndrome

S. E. Stewart, A. Singleton, C. Sabatti, 2012, Molecular Psychiatry.

A mutant allele of the Swi/Snf member BAF250a determines the pool size of fetal liver hemopoietic stem cell populations.

J. Krosl, G. Sauvageau, B. Wilhelm, 2010, Blood.

Human copy number variants are enriched in regions of low-mappability

Jean Monlong, G. Bourque, G. Rouleau, 2015, bioRxiv.

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

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

A retroviral strategy that efficiently creates chromosomal deletions in mammalian cells

G. Sauvageau, S. Girard, J. Hébert, 2007, Nature Methods.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Michael R. Johnson, A. Uitterlinden, P. May, 2018, The Lancet Neurology.

Genetic Landscape of Electron Transport Chain Complex I Dependency in Acute Myeloid Leukemia

M. Tyers, G. Boucher, J. Krosl, 2019, bioRxiv.

The role of common genetic variation in presumed monogenic epilepsies

Colin A. Ellis, I. Scheffer, Y. Feng, 2022, EBioMedicine.

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2015, Journal of Molecular Neuroscience.

An anticlastogenic function for the Polycomb Group gene Bmi1

G. Sauvageau, S. Girard, J. Hébert, 2011, Proceedings of the National Academy of Sciences.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

G. Rouleau, S. Girard, P. Dion, 2019, Parkinsonism & related disorders.

Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort

C. Moreau, F. Hamdan, J. Michaud, 2020, bioRxiv.

E4F1 is a master regulator of CHK1-mediated functions.

Grant W. Brown, G. Sauvageau, S. Meloche, 2015, Cell reports.

Testing association of rare genetic variants with resistance to three common antiseizure medications

Michael R. Johnson, Josemir W Sander, R. Krause, 2020, Epilepsia.

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

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

Restless legs syndrome‐associated MEIS1 risk variant influences iron homeostasis

J. Montplaisir, G. Rouleau, G. Turecki, 2011, Annals of neurology.

Genome-wide association study in FTD: divide to conquer

G. Rouleau, S. Girard, 2014, The Lancet Neurology.

Eosinophilic esophagitis with extremely high esophageal eosinophil counts

M. Sears, C. Laprise, Q. Duan, 2020 .

Deciphering the genetic structure of the Quebec founder population using genealogies

C. Laprise, H. Vézina, C. Moreau, 2022, bioRxiv.

I s a M aster R egulator of C HK1-Mediated F unctions

Grant W. Brown, G. Sauvageau, S. Meloche, 2015 .

UBAP2L is a novel BMI1-interacting protein essential for hematopoietic stem cell activity.

G. Sauvageau, Martin Sauvageau, P. Thibault, 2014, Blood.

Unraveling the role of non-coding rare variants in epilepsy

S. Girard, P. Cossette, B. Minassian, 2022, medRxiv.

Impact of Paternal Age at Conception on Human Health.

C. Laprise, S. Girard, Mathieu Simard, 2019, Clinical chemistry.

Association of Essential Tremor With Novel Risk Loci

M. Hallett, J. Jankovic, G. Deuschl, 2022, JAMA neurology.

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

C. Laprise, C. Moreau, F. Hamdan, 2022, medRxiv.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

R. Tremblay, M. Dubé, G. Rouleau, 2016, PloS one.

De novo variants in sporadic cases of childhood onset schizophrenia

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

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

M. Krebs, M. Dubé, R. Joober, 2015, PloS one.

UM171 Preserves Epigenetic Marks that Are Reduced in Ex Vivo Culture of Human HSCs via Potentiation of the CLR3-KBTBD4 Complex.

M. Tyers, G. Sauvageau, J. Coulombe-Huntington, 2021, Cell stem cell.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

J. Bouchard, Andrew W. Folkmann, G. Rouleau, 2015, Human molecular genetics.

Genome-Wide Interrogation of Mammalian Stem Cell Fate Determinants by Nested Chromosome Deletions

J. Krosl, G. Sauvageau, S. Girard, 2010, PLoS genetics.

Molecular dissection of Meis1 reveals 2 domains required for leukemia induction and a key role for Hoxa gene activation.

J. Krosl, G. Sauvageau, S. Girard, 2006, Blood.

Human copy number variants are enriched in regions of low mappability

Guillaume Bourque, Guy Rouleau, Jean Monlong, 2015, bioRxiv.

Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study

Anne, Ruppert, Michael R. Johnson, 2018 .

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

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

RNA-seq analysis of 2 closely related leukemia clones that differ in their self-renewal capacity.

G. Boucher, G. Sauvageau, B. Wilhelm, 2011, Blood.

UBAP2L is amplified in a large subset of human lung adenocarcinoma and is critical for epithelial lung cell identity and tumor metastasis

G. Boucher, G. Sauvageau, P. Gendron, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Where are the missing pieces of the schizophrenia genetics puzzle?

G. Rouleau, S. Girard, P. Dion, 2011, Current opinion in genetics & development.

Genome-wide characterization of copy number variants in epilepsy patients

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

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

S. E. Stewart, C. Sabatti, N. Freimer, 2015, The American journal of psychiatry.

Schizophrenia Genetics: Putting All the Pieces Together

G. Rouleau, S. Girard, P. Dion, 2012, Current Neurology and Neuroscience Reports.

How de novo mutation studies will change our view of the genetics of neurological and psychiatric disorders

G. Rouleau, S. Girard, 2011 .

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

J. Montplaisir, G. Rouleau, J. Rivière, 2009, Human molecular genetics.

E4F1: a novel candidate factor for mediating BMI1 function in primitive hematopoietic cells.

G. Sauvageau, Martin Sauvageau, Sherry L. Niessen, 2006, Genes & development.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

A. Desautels, R. Postuma, J. Montplaisir, 2016, Neurobiology of Aging.

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

M. Nalls, A. Singleton, C. Blauwendraat, 2019, bioRxiv.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1

A. Desautels, J. Montplaisir, E. Lemyre, 2009, Movement disorders : official journal of the Movement Disorder Society.

Polygenic risk scores of several subtypes of epilepsies in a founder population

C. Laprise, C. Moreau, J. Michaud, 2019, Neurology: Genetics.

Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.

M. Pool, R. Kothary, S. Vidal, 2001, Human molecular genetics.

Comparison of Sequencing Based CNV Discovery Methods Using Monozygotic Twin Quartets

Marie-Pierre Dubé, Marc-André Legault, Guy A. Rouleau, 2015, PloS one.

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

Michael R. Johnson, R. Krause, P. Striano, 2021, Annals of clinical and translational neurology.

UM171 induces a homeostatic inflammatory-detoxification response supporting human HSC self-renewal

G. Sauvageau, S. Girard, I. Fares, 2019, PloS one.

Functional variants of POC 5 identified in patients with idiopathic scoliosis

F. Clerget-Darpoux, G. Rouleau, P. Drapeau, 2019 .

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

M. Krebs, R. Joober, G. Rouleau, 2013, Behavioral and Brain Functions.

Functional variants of POC5 identified in patients with idiopathic scoliosis.

F. Clerget-Darpoux, G. Rouleau, P. Drapeau, 2015, The Journal of clinical investigation.

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2015, Journal of Molecular Neuroscience.

Identification of MYC mutations in acute myeloid leukemias with NUP98–NSD1 translocations

G. Boucher, G. Sauvageau, P. Gendron, 2016, Leukemia.

Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits

A. Bureau, S. Girard, M. Maziade, 2023, HGG advances.

POLYGENIC RISK SCORE FOR ATOPIC DERMATITIS IN THE CANADIAN POPULATION.

M. Sears, C. Laprise, Q. Duan, 2020, The Journal of allergy and clinical immunology.