Natacha Martin

Creteil, France

Last Updated: 09/26/2026

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Found 8 publications

Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.

Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: March 27, 2020

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Journal: Human mutation

Published: August 10, 2017

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Journal: ERJ open research

Published: July 03, 2017

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Journal: Clinical case reports

Published: March 07, 2016

Genetic characterization of Plasmodium falciparum allelic variants infecting mothers at delivery and their children during their first plasmodial infections.

Genetic characterization of Plasmodium falciparum allelic variants infecting mothers at delivery and their children during their first plasmodial infections.

Journal: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases

Published: June 14, 2013

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Journal: Human mutation

Published: May 06, 2013

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

Journal: Human mutation

Published: February 21, 2012

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Journal: Human mutation

Published: February 13, 2012

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Last Updated: 09/26/2026