Francis Ramond

Saint-etienne-de-valoux, France

Last Updated: 09/26/2026

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Found 33 publications

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

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

Published: December 18, 2025

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Journal: Science advances

Published: October 17, 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

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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Journal: Journal of neurology

Published: November 28, 2024

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology

Published: October 28, 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

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Journal: Cerebellum (London, England)

Published: July 24, 2024

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Journal: Journal of neurology

Published: April 08, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: April 02, 2024

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Last Updated: 09/26/2026