Audrey Labalme

Groupement Hospitalier Est
Bron, France

Last Updated: 09/26/2026

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Found 87 publications

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Journal: European journal of human genetics : EJHG

Published: December 09, 2025

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: November 13, 2025

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Journal: EBioMedicine

Published: October 07, 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

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

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

Journal: European journal of human genetics : EJHG

Published: January 29, 2025

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Journal: Clinical genetics

Published: January 03, 2025

Transposable element expression is associated with sex chromosome number in humans.

Transposable element expression is associated with sex chromosome number in humans.

Journal: PLoS genetics

Published: July 25, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology

Published: January 02, 2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Journal: Epilepsia open

Published: September 11, 2023

Showing 1-12 of 87

Last Updated: 09/26/2026