Mridul Johari

Helsinki, Finland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 56 publications

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

Journal: European journal of human genetics : EJHG

Published: November 03, 2025

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Journal: Cell death & disease

Published: September 30, 2025

Novel missense variants associated with GNE myopathy.

Novel missense variants associated with GNE myopathy.

Journal: Neuromuscular disorders : NMD

Published: July 21, 2025

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine

Published: July 17, 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

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Journal: Journal of neurology

Published: July 01, 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

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development.

Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development.

Journal: Skeletal muscle

Published: April 08, 2025

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

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

The classification of myositis: setting the stage for a universal terminology.

The classification of myositis: setting the stage for a universal terminology.

Journal: Clinical and experimental rheumatology

Published: October 30, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026