J. St‐Onge

发表

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

G. Rouleau, J. Rivière, M. Srour, 2020, Journal of child neurology.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

R. Happle, C. Chiaverini, J. Rivière, 2016, The Journal of investigative dermatology.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

J. Rivière, L. Faivre, Y. Duffourd, 2016, The Journal of investigative dermatology.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

V. Meininger, F. Salachas, J. Bouchard, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

B. V. van Bon, A. Hoischen, H. Brunner, 2017, Journal of Medical Genetics.

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.

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

J. Bouchard, G. Rouleau, W. Camu, 2011, Journal of Human Genetics.

SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia

B. Brais, G. Rouleau, P. Cossette, 2007, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

G. Rouleau, J. Rivière, C. Saint-Martin, 2019, neurogenetics.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

G. Pazour, J. Rivière, J. Thevenon, 2016, Clinical genetics.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

F. Dhombres, J. Rivière, M. Gonzalès, 2017, The British journal of dermatology.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

M. Ross, G. Captier, C. Gondry-Jouet, 2019, Nature Genetics.

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

Laurent Mottron, Guy A Rouleau, Eric Fombonne, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Topical Application of Dieckol Ameliorates Atopic Dermatitis in NC/Nga Mice by Suppressing Thymic Stromal Lymphopoietin Production

J. Rivière, L. Faivre, Y. Duffourd, 2022 .

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

T. Bourgeron, R. Delorme, D. Campion, 2015, European Journal of Human Genetics.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS

G. Rouleau, P. Couratier, B. Funalot, 2009, Annals of human genetics.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

Laurent Mottron, Fabio Benfenati, Flavia Valtorta, 2011, Human molecular genetics.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.

J. Bouchard, D. Verlaan, G. Rouleau, 2008, Archives of neurology.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J. Rivière, J. Thevenon, L. Faivre, 2017, The Journal of investigative dermatology.

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians.

A. Desautels, J. Montplaisir, G. Rouleau, 2008, Sleep medicine.

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.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015, Brain : a journal of neurology.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature 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.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Michael B. Stadler, S. Smallwood, J. Rivière, 2019, Cell stem cell.

Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome

J. Vincent, C. Saunders, G. Rouleau, 2005, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

PI 3 K / AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015 .

Molecular genetic studies of DMT1 on 12q in French‐Canadian restless legs syndrome patients and families

A. Desautels, J. Montplaisir, M. Dubé, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia.

L. DeLisi, C. Benkelfat, S. Lal, 2005, Brain Research. Molecular Brain Research.

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.

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

A. Desautels, J. Montplaisir, M. Dubé, 2006, Neurology.

The 14q restless legs syndrome locus in the French Canadian population

A. Desautels, J. Montplaisir, M. Dubé, 2004, Annals of neurology.

Genome-Wide TDT Analysis in French-Canadian Families with Tourette Syndrome

F. Richer, M. Dubé, G. Rouleau, 2010, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

E. Fombonne, M. Dubé, L. Mottron, 2006, Molecular Psychiatry.

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

J. Rivière, J. Thevenon, L. Faivre, 2015, American journal of medical genetics. Part A.

A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3

M. Dubé, D. Verlaan, G. Rouleau, 2006, Journal of Medical Genetics.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Association of intronic variants of the BTBD9 gene with Tourette syndrome.

F. Richer, G. Rouleau, J. Rivière, 2009, Archives of neurology.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

G. Rouleau, J. Rivière, C. Saint-Martin, 2019, neurogenetics.

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada

G. Rouleau, D. Brunet, N. Dupré, 2006, Neurology.

Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant

M. Srour, J. St‐Onge, Ahmed N. Sahly, 2020, Human Genetics.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

J. Mullikin, A. Bassuk, W. Gahl, 2016, Annals of clinical and translational neurology.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development

Joël Lafond-Lapalme, J. St‐Onge, Nassima Addour-Boudrahem, 2023, Neurology. Genetics.

Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

R. Joober, Y. Trakadis, A. Accogli, 2023, Psychiatry Research Case Reports.

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.