Roseline Caumes

Lille, 59000, France

Last Updated: 09/26/2026

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Found 42 publications

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Journal: Orphanet journal of rare diseases

Published: July 21, 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Journal: Human genomics

Published: December 02, 2025

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 28, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.

Journal: HGG advances

Published: March 20, 2025

Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.

Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.

Journal: Computational and structural biotechnology journal

Published: February 26, 2025

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Journal: Epilepsia

Published: February 25, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Brain malformations and seizures by impaired chaperonin function of TRiC.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Journal: Science (New York, N.Y.)

Published: October 31, 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

Showing 1-12 of 42

Last Updated: 09/26/2026