Timeline

Claire Leblond

Permanent Researcher

26 Jun 2023

publication

Phenotypic effects of genetic variants associated with autism.

13 Jun 2022

project

Étude des facteurs génétiques impliqués dans l’autisme et les troubles apparentés (projet “C07/C16”)

25 Mar 2022

tool

GeneTrek

01 Jun 2021

publication

Operative list of genes associated with autism and neurodevelopmental disorders based on database review.

11 Jun 2020

project

PARIS: Paris Autism Research International Sib-Pair Study

21 Jan 2019

publication

Both rare and common genetic variants contribute to autism in the Faroe Islands.

04 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

27 Feb 2018

project

EU-AIMS

03 Feb 2017

publication

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

01 Jan 2017

publication

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

14 Nov 2016

project

Background on the genetics of ASD

13 Oct 2016

publication

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

25 Jul 2016

publication

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

03 May 2016

publication

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

15 Apr 2016

publication

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

10 Mar 2016

publication

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

25 Feb 2016

publication

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

22 Feb 2016

project

Phelan-McDermid Syndrome: from mechanisms to treatments

01 Dec 2015

publication

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

28 Sep 2015

publication

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

31 Jul 2015

publication

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

16 Jul 2015

project

The serotonin-NAS-melatonin pathway and susceptibility to ASD

25 Jun 2015

publication

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

17 Jun 2015

publication

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

05 May 2015

publication

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

01 May 2015

publication

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

22 Apr 2015

publication

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

17 Mar 2015

publication

Genetic markers of Restless Legs Syndrome in Parkinson disease

19 Feb 2015

publication

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

01 Dec 2014

team

Human Genetics and Cognitive Functions

22 Oct 2014

publication

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

01 Sep 2014

publication

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

03 Dec 2013

publication

Heterozygous FA2H mutations in autism spectrum disorders

28 Aug 2013

publication

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

29 Apr 2012

publication

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.

09 Feb 2012

publication

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

01 Nov 2011

publication

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

04 Mar 2011

publication

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

05 Jan 2011

publication

Behavioral profiles of mouse models for autism spectrum disorders

06 Jul 2010

publication

A little guide for advanced search:

Phenotypic effects of genetic variants associated with autism.

Étude des facteurs génétiques impliqués dans l’autisme et les troubles apparentés (projet “C07/C16”)

GeneTrek

Operative list of genes associated with autism and neurodevelopmental disorders based on database review.

PARIS: Paris Autism Research International Sib-Pair Study

Both rare and common genetic variants contribute to autism in the Faroe Islands.

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

EU-AIMS

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

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Background on the genetics of ASD

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Phelan-McDermid Syndrome: from mechanisms to treatments

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

The serotonin-NAS-melatonin pathway and susceptibility to ASD

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

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

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

Genetic markers of Restless Legs Syndrome in Parkinson disease

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Human Genetics and Cognitive Functions

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Heterozygous FA2H mutations in autism spectrum disorders

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Behavioral profiles of mouse models for autism spectrum disorders

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.