Melanie Letexier

Evry, 91000, France

Last Updated: 09/26/2026

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Found 22 publications

Analysis of low-input and degraded forensic DNA trace samples with NGS using the MiSeq FGx platform.

Analysis of low-input and degraded forensic DNA trace samples with NGS using the MiSeq FGx platform.

Journal: Forensic science international. Genetics

Published: November 02, 2025

An innovative approach for low input forensic DNA sample analysis using the GlobalFiler™ IQC PCR amplification Kit on the Magelia® platform.

An innovative approach for low input forensic DNA sample analysis using the GlobalFiler™ IQC PCR amplification Kit on the Magelia® platform.

Journal: Forensic science international. Genetics

Published: February 23, 2024

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

Journal: Clinical genetics

Published: June 05, 2020

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Journal: International journal of molecular sciences

Published: August 28, 2019

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Journal: Clinical genetics

Published: July 09, 2018

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

Journal: Clinical genetics

Published: August 16, 2017

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

Journal: PloS one

Published: September 21, 2016

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Journal: Clinical genetics

Published: July 31, 2016

Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV.

Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: April 16, 2016

AAV2 and Hepatocellular Carcinoma.

AAV2 and Hepatocellular Carcinoma.

Journal: Human gene therapy

Published: March 04, 2016

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Journal: European journal of human genetics : EJHG

Published: February 16, 2016

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Journal: Clinical genetics

Published: December 15, 2015

Showing 1-12 of 22

Last Updated: 09/26/2026