Clemence Vanlerberghe

Lille, France

Last Updated: 09/26/2026

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Found 32 publications

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Journal: Clinical genetics
Published: May 06, 2025

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Journal: Clinical genetics
Published: April 25, 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

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine
Published: October 08, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics
Published: October 02, 2024

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Journal: European journal of human genetics : EJHG
Published: July 13, 2024

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Journal: American journal of medical genetics. Part A
Published: April 30, 2024

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2024

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 06, 2024

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2023

Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.

Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.

Journal: Frontiers in psychology
Published: May 30, 2023

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG
Published: May 10, 2023
Showing 1-12 of 32

Last Updated: 09/26/2026