Luke Mansard

Montpellier, France

Last Updated: 09/26/2026

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Found 14 publications

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Journal: Annales d'endocrinologie

Published: March 21, 2026

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

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

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: April 17, 2025

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 12, 2024

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Journal: Human genetics

Published: December 01, 2024

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Journal: European journal of human genetics : EJHG

Published: December 12, 2023

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Journal: European journal of human genetics : EJHG

Published: March 13, 2023

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

Journal: The Journal of clinical investigation

Published: April 18, 2022

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.

Journal: Diagnostics (Basel, Switzerland)

Published: December 24, 2021

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Journal: International journal of molecular sciences

Published: October 29, 2021

Showing 1-12 of 14

Last Updated: 09/26/2026