Pierre Bitoun

Juvisy-sur-orge, 91260, France

Last Updated: 09/26/2026

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Found 22 publications

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Journal: Genes
Published: November 09, 2024

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics
Published: June 01, 2023

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Journal: Journal of medical genetics
Published: March 12, 2023

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Journal: Human mutation
Published: August 13, 2021

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Journal: European journal of human genetics : EJHG
Published: November 07, 2019

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Journal: Journal of human genetics
Published: July 24, 2019

The supplementary motor area modulates interhemispheric interactions during movement preparation.

The supplementary motor area modulates interhemispheric interactions during movement preparation.

Journal: Human brain mapping
Published: July 26, 2018

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Journal: Human genetics
Published: March 28, 2018

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Journal: Clinical genetics
Published: August 17, 2016

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Journal: Nature genetics
Published: June 10, 2016

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

Journal: Human mutation
Published: January 08, 2016

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Journal: American journal of human genetics
Published: November 16, 2015
Showing 1-12 of 22

Last Updated: 09/26/2026