Ligne de temps
Claire Leblond
Chercheur(euse) Permanent(e)
26 juin 2023
13 juin 2022
project
Étude des facteurs génétiques impliqués dans l’autisme et les troubles apparentés (projet “C07/C16”)
Lire plus25 mars 2022
01 juin 2021
publication
Operative list of genes associated with autism and neurodevelopmental disorders based on database review.
Lire plus11 juin 2020
21 janv. 2019
publication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Lire plus04 oct. 2018
publication
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology
Lire plus27 févr. 2018
03 févr. 2017
publication
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population
Lire plus01 janv. 2017
publication
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Lire plus14 nov. 2016
13 oct. 2016
publication
The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder
Lire plus25 juil. 2016
03 mai 2016
publication
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease
Lire plus15 avr. 2016
10 mars 2016
publication
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia
Lire plus25 févr. 2016
publication
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
Lire plus22 févr. 2016
01 déc. 2015
publication
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
Lire plus28 sept. 2015
publication
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
Lire plus31 juil. 2015
16 juil. 2015
25 juin 2015
publication
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Lire plus17 juin 2015
publication
Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome
Lire plus05 mai 2015
publication
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis
Lire plus01 mai 2015
publication
Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder
Lire plus22 avr. 2015
publication
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients
Lire plus17 mars 2015
19 févr. 2015
publication
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Lire plus01 déc. 2014
22 oct. 2014
publication
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
Lire plus01 sept. 2014
publication
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Lire plus03 déc. 2013
28 août 2013
publication
The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations
Lire plus29 avr. 2012
09 févr. 2012
publication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Lire plus01 nov. 2011
publication
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
Lire plus04 mars 2011
publication
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
Lire plus05 janv. 2011
06 juil. 2010
publication