Julie Miro

Montpellier, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.

Journal: American journal of human genetics

Published: March 14, 2025

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.

Journal: Cellular and molecular life sciences : CMLS

Published: September 10, 2023

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.

Journal: International journal of molecular sciences

Published: September 22, 2020

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: October 26, 2017

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Journal: Scientific reports

Published: March 29, 2017

Normal and altered pre-mRNA processing in the DMD gene.

Normal and altered pre-mRNA processing in the DMD gene.

Journal: Human genetics

Published: February 10, 2017

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Journal: Scientific reports

Published: July 18, 2016

FUBP1: a new protagonist in splicing regulation of the DMD gene.

FUBP1: a new protagonist in splicing regulation of the DMD gene.

Journal: Nucleic acids research

Published: February 10, 2015

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

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

Published: December 05, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026