List of works - Thierry Bienvenu

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

scientific article

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome

scientific article published on 25 July 2015

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

scientific article published on 28 September 2017

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

scientific article published on 19 August 2019

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

scientific article

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

scientific article published on 6 June 2017

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

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

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa

scientific article published on 29 October 2019

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model

scientific article published on 30 January 2015

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology

scientific article published on 06 August 2019

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

scientific article published on 4 December 2017

Pitfalls in the interpretation of CFTR variants in the context of incidental findings

scientific article published on 26 August 2019

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome

scientific article published on 16 July 2018

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases.

scientific article published on 25 March 2018

List of works by Thierry Bienvenu

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Pitfalls in the interpretation of CFTR variants in the context of incidental findings

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases.