Mireille Cossee

Montpellier, France

Last Updated: 09/26/2026

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Found 55 publications

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Journal: Neuromuscular disorders : NMD

Published: February 20, 2026

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

Phenotype-specific muscle proteomic profiling in titinopathies.

Phenotype-specific muscle proteomic profiling in titinopathies.

Journal: Acta neuropathologica communications

Published: September 12, 2025

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Journal: Muscle & nerve

Published: September 08, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: Brain : a journal of neurology

Published: June 26, 2025

MobiCT: a UMI-based circulating tumor DNA analysis pipeline.

MobiCT: a UMI-based circulating tumor DNA analysis pipeline.

Journal: NAR genomics and bioinformatics

Published: June 13, 2025

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: April 17, 2025

Generation of three iPSC lines from patients with CACNA1S related congenital myopathy.

Generation of three iPSC lines from patients with CACNA1S related congenital myopathy.

Journal: Stem cell research

Published: February 21, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

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

Published: December 27, 2024

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

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

Published: December 17, 2024

Showing 1-12 of 55

Last Updated: 09/26/2026