Caroline Nava

Paris, France

Last Updated: 09/26/2026

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Found 127 publications

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026

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

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Journal: Journal of neuromuscular diseases
Published: February 25, 2026

A transposase-derived gene required for human brain development.

A transposase-derived gene required for human brain development.

Journal: Science advances
Published: January 14, 2026

Genome sequencing identifies monogenic causes in adults with metabolic diseases.

Genome sequencing identifies monogenic causes in adults with metabolic diseases.

Journal: Journal of the Endocrine Society
Published: October 22, 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

RBMX functional retrocopy safeguards brain development in a species-dependent context.

RBMX functional retrocopy safeguards brain development in a species-dependent context.

Journal: Brain : a journal of neurology
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

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 variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Journal: Genome medicine
Published: August 05, 2025

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Showing 1-12 of 127

Last Updated: 09/26/2026