List of works - Jean-Baptiste Rivière

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 March 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 01 November 2019

Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

article

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

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

scientific article

Genome-wide TDT analysis in French-Canadian families with Tourette syndrome

scientific article published in January 2010

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

scientific article published in September 2011

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

LINGO1 variants in the French-Canadian population

scientific article (publication date: 11 January 2011)

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

scientific article published on 2 February 2017

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

scientific article

Mutations in DCC cause congenital mirror movements.

scientific article

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

scientific article published on 08 July 2019

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

scientific article (publication date: November 2002)

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

scientific article published on 09 May 2016

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

scientific article

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

scientific article published on 31 May 2011

List of works by Jean-Baptiste Rivière

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Exome sequencing identifies FUS mutations as a cause of essential tremor

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

Genome-wide TDT analysis in French-Canadian families with Tourette syndrome

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

LINGO1 variants in the French-Canadian population

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

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

Mutations in DCC cause congenital mirror movements.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

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

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum