Odile Benejean-Boute

Lille, France

Last Updated: 09/26/2026

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Found 16 publications

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Journal: Clinical genetics

Published: November 08, 2024

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Journal: European journal of medical genetics

Published: October 09, 2024

TRIT1 deficiency: Two novel patients with four novel variants.

TRIT1 deficiency: Two novel patients with four novel variants.

Journal: European journal of medical genetics

Published: April 25, 2022

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Journal: Human mutation

Published: October 18, 2021

Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.

Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.

Journal: Human reproduction (Oxford, England)

Published: October 22, 2019

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

Journal: European journal of human genetics : EJHG

Published: January 24, 2019

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Journal: American journal of human genetics

Published: October 17, 2018

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal: Journal of medical genetics

Published: March 26, 2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Journal: Neurogenetics

Published: November 28, 2017

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Journal: Journal of medical genetics

Published: November 23, 2016

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Journal: European journal of human genetics : EJHG

Published: September 18, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026