Lista de obras -

A population genetic approach to mapping neurological disorder genes using deep resequencing

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

article

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

artículo científico publicado en 2016

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

scientific article published on 24 September 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor

artículo científico publicado en 2020

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

scientific article published on 31 October 2020

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

scientific article published on 15 January 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

artículo científico publicado en 2009

De novo mutations in moderate or severe intellectual disability

artículo científico publicado en 2014

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

artículo científico publicado en 2010

De novo truncating mutation in Kinesin 17 associated with schizophrenia

artículo científico publicado en 2010

De novo variants in sporadic cases of childhood onset schizophrenia

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Evolution of a Human-Specific Tandem Repeat Associated with ALS

artículo científico publicado en 2020

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

article

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

Genetic architecture and adaptations of Nunavik Inuit

artículo científico publicado en 2019

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

scientific article published on 18 November 2019

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

artículo científico publicado en 2014

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Increased exonic de novo mutation rate in individuals with schizophrenia

artículo científico publicado en 2011

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Loss-of-function de novo mutations play an important role in severe human neural tube defects

artículo científico publicado en 2015

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

article

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

scientific article published on 06 April 2020

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

artículo científico publicado en 2009

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Novel Associations of <i>BST1</i> and <i>LAMP3</i> with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2021

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

artículo científico publicado en 2015

Novel de novo SHANK3 mutation in autistic patients

artículo científico publicado en 2009

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

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

artículo científico publicado en 2016

Rare deleterious variants in GRHL3 are associated with human spina bifida

artículo científico publicado en 2017

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

article

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

scholarly article by Bouchra Ouled Amar Bencheikh et al published 2 July 2018 in Neurobiology of Aging

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

scientific article published on 31 July 2020

Triple A syndrome presenting as complicated hereditary spastic paraplegia

article

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

Whole exome sequencing identifies novel predisposing genes in neural tube defects

artículo científico publicado en 2018

Lista de obras de

A population genetic approach to mapping neurological disorder genes using deep resequencing

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

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

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

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

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

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

Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor

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

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

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

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

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo mutations in moderate or severe intellectual disability

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

De novo truncating mutation in Kinesin 17 associated with schizophrenia

De novo variants in sporadic cases of childhood onset schizophrenia

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

Evolution of a Human-Specific Tandem Repeat Associated with ALS

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Exome sequencing identifies FUS mutations as a cause of essential tremor

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

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

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

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

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

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

Genetic architecture and adaptations of Nunavik Inuit

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

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

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

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

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

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

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

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

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

Increased exonic de novo mutation rate in individuals with schizophrenia

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

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

Loss-of-function de novo mutations play an important role in severe human neural tube defects

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

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

Novel Associations of <i>BST1</i> and <i>LAMP3</i> with Rapid Eye Movement Sleep Behavior Disorder

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

Novel de novo SHANK3 mutation in autistic patients

Oligogenicity, C9orf72 expansion, and variant severity in ALS

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

Rare deleterious variants in GRHL3 are associated with human spina bifida

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

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

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

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

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

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

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

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

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

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

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

Triple A syndrome presenting as complicated hereditary spastic paraplegia

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

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

Whole exome sequencing identifies novel predisposing genes in neural tube defects