Caroline Bolard-Schluth

Groupement Hospitalier Est, Hospices Civils De Lyon
Bron, 69500, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 70 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal: Journal of medical genetics

Published: November 04, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Journal: European journal of human genetics : EJHG

Published: September 11, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

ISCN and Chromoanagenesis.

ISCN and Chromoanagenesis.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: August 30, 2025

Structural and Mechanistic Diversity of Constitutional Chromoanagenesis.

Structural and Mechanistic Diversity of Constitutional Chromoanagenesis.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: August 30, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2025

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Journal: Journal of medical genetics

Published: April 04, 2025

Showing 1-12 of 70

Last Updated: 09/26/2026