R. Lafreniére

发表

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

Carolyn J. Brown, J. Lawrence, H. Willard, 1992, Cell.

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.

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Carolyn J. Brown, H. Willard, A. Ballabio, 1991, Nature.

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

E. Fombonne, J. Lacaille, M. Krebs, 2010, American journal of human 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.

Report and abstracts of the Sixth International Workshop on Human Chromosome 21 Mapping 1996. Cold Spring Harbor, New York, USA. May 6-8,1996.

John Quackenbush, R. Hubert, J. Korenberg, 1997, Cytogenetics and cell genetics.

Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues

G. Rouleau, M. Shekarabi, J. Laganière, 2013, PloS one.

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.

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm.

H. Willard, D. Valle, T. Shows, 1991, Genomics.

Lack of association between the hSKCa3 channel gene CAG polymorphism and schizophrenia.

M. Alda, C. Benkelfat, S. Lal, 1999, American journal of medical genetics.

Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.

T. Südhof, H. Willard, U. Francke, 1990, American journal of human genetics.

Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.

H. Willard, F. S. French, D. Lubahn, 1992, The Journal of clinical endocrinology and metabolism.

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

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

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

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

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1.

H. Willard, T. Glover, R. Loch-Caruso, 1992, Genomics.

Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

L. Griffiths, G. Ebers, G. Rouleau, 2012, Scientific Reports.

Migraine: Role of the TRESK two-pore potassium channel.

G. Rouleau, R. Lafreniére, 2011, The international journal of biochemistry & cell biology.

Analysis of 14 CAG repeat-containing genes in schizophrenia.

A Labelle, M. Alda, C. Benkelfat, 1999, American journal of medical genetics.

Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome.

H. Willard, C. Brown, L. Carrel, 1991, Genomics.

Localization of the X inactivation centre on the human X chromosome in Xq13

Carolyn J. Brown, D. Ledbetter, H. Willard, 1991, Nature.

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

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

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.

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.

A. Monaco, A. C. Chinault, H. Willard, 1993, Human molecular genetics.

Identification of Novel Genes Involved in Migraine

G. Rouleau, R. Lafreniére, 2012, Headache.

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

G. Rouleau, D. Rochefort, R. Lafreniére, 2003, Epilepsy Research.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

G. Rouleau, J. Rivière, L. Faivre, 2008, The Journal of clinical investigation.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

M. Hayden, X. Breakefield, B. Brais, 2004, American journal of human genetics.

An 18-locus linkage map of the pericentromeric region of the human X chromosome: genetic framework for mapping X-linked disorders.

H. Willard, R. Lafreniére, T. Kruse, 1991, Genomics.

Pulsed-field map of Xq13 in the region of the human X inactivation center.

H. Willard, R. Lafreniére, 1993, Genomics.

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

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

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

J. Rommens, F. Andermann, J. Janszky, 1997, Nature Genetics.

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.

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

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

Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.

H. Willard, I. Craig, D. Oscier, 1994, Human molecular genetics.

A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.

H. Willard, L. Carrel, R. Lafreniére, 1994, Human molecular genetics.

Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region

E. Shink, M. Dubé, R. Lafreniére, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Instability of the EPM1 minisatellite.

G. Rouleau, R. Lafreniére, T. Krontiris, 1999, Human molecular genetics.

Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.

J. Rommens, M. Dubé, G. Rouleau, 1997, Gene.

Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3.

G. Rouleau, R. Korneluk, D. Rochefort, 1996, Genome research.

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

E. Fombonne, S. Aradhya, M. Dubé, 2008, Human molecular genetics.

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.

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.

A. Chakravarti, G. Rouleau, M. Chevrette, 1999, Genomics.

Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci.

M. Alda, A. Berghöfer, P. Grof, 2000, Journal of affective disorders.

Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.

S. J. Sadler, D. Ledbetter, H. Willard, 1991, Cytogenetics and cell genetics.

Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice.

M. Dubé, L. Castellani, S. Vidal, 2012, Physiological genomics.

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Marie-Pierre Dubé, Olaf Ansorge, Namrata Gupta, 2010, Nature Medicine.

Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A.

R. Norum, H. Willard, B. Ponder, 1990, Genomics.

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.

J. Rommens, G. Rouleau, E. Andermann, 1996, Genomics.

A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.

P. D. de Jong, P. Jong, G. Rouleau, 1995, Genomics.

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

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

WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)

E. Brustein, G. Rouleau, P. Drapeau, 2013, PLoS genetics.

Voltage-Gated Na+ Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy

G. Rouleau, W. Brackenbury, R. Lafreniére, 2011, The Journal of Neuroscience.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

E. Fombonne, J. Lacaille, L. Mottron, 2009, Archives of neurology.

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Jean-Baptiste Rivière, Dominique J Verlaan, Masoud Shekarabi, 2004, Annals of neurology.

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

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

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

G. Rouleau, J. Rivière, L. Faivre, 2008, Journal of Clinical Investigation.