List of works - Alexandre Dionne-Laporte

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

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

scientific article published on 3 May 2016

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 01 September 2012

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

scientific article published on 17 April 2018

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De novo mutations in moderate or severe intellectual disability

scientific article

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Draft genome sequence of the rubber tree Hevea brasiliensis

scientific article

Epistasis analysis links immune cascades and cerebral amyloidosis

scientific article

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

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

scientific article published on 22 July 2015

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

article

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

scientific article

Exome sequencing reveals SPG11 mutations causing juvenile ALS

scientific article published on 10 December 2011

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

scientific article published on 27 February 2018

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

scientific article published on 23 June 2017

Genetic architecture and adaptations of Nunavik Inuit

scientific article published on 22 July 2019

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

scientific article

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

scientific article published on 12 March 2018

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

scientific article published on 12 April 2018

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

scientific article published on 07 August 2015

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

scientific article published on 8 March 2018

Increased exonic de novo mutation rate in individuals with schizophrenia

scientific article published on 10 July 2011

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

scientific article published on 26 May 2015

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

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

scientific article published on 24 March 2015

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

scientific article published on 28 February 2020

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

scientific article published on 14 November 2019

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

article

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on May 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values

scientific article published on 27 June 2018

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

scientific article

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

scientific article published on 30 September 2016

Rare deleterious variants in GRHL3 are associated with human spina bifida

scientific article

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

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

scientific article published on 20 February 2019

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

scientific article published on 12 September 2019

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

scientific article

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

article

The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus).

scientific article

Whole exome sequencing identifies novel predisposing genes in neural tube defects

article

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

scientific article published on 30 May 2019

List of works by Alexandre Dionne-Laporte

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

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

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia

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

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

De novo mutations in moderate or severe intellectual disability

De novo variants in sporadic cases of childhood onset schizophrenia

Draft genome sequence of the rubber tree Hevea brasiliensis

Epistasis analysis links immune cascades and cerebral amyloidosis

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 revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

Exome sequencing reveals SPG11 mutations causing juvenile ALS

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

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

Genetic architecture and adaptations of Nunavik Inuit

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

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 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

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

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

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

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

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values

Oligogenicity, C9orf72 expansion, and variant severity in ALS

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

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

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

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

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

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

The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus).

Whole exome sequencing identifies novel predisposing genes in neural tube defects

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