Myriam Vezain

Rouen, France

Last Updated: 09/26/2026

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Found 22 publications

Artemether-lumefantrine for the treatment of Plasmodium falciparum malaria in Laos: a therapeutic efficacy study coupled with genomic and in vitro phenotypic analyses.

Artemether-lumefantrine for the treatment of Plasmodium falciparum malaria in Laos: a therapeutic efficacy study coupled with genomic and in vitro phenotypic analyses.

Journal: The Lancet. Microbe

Published: September 26, 2025

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

Journal: Journal of medical genetics

Published: October 21, 2024

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

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

Published: April 12, 2024

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Journal: Genes & diseases

Published: January 23, 2024

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Journal: Human genetics

Published: January 21, 2023

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Journal: Human genetics

Published: May 19, 2022

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Journal: Human mutation

Published: March 11, 2022

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Journal: American journal of medical genetics. Part A

Published: April 30, 2021

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Journal: Acta neuropathologica communications

Published: March 26, 2021

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Journal: Diagnostics (Basel, Switzerland)

Published: January 26, 2021

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Journal: Cancer research

Published: March 31, 2020

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

Journal: European journal of human genetics : EJHG

Published: November 22, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026