Mridul Johari

22PUBLICATIONS
83CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesPredictive and prognostic markersStructural properties of condensed matterGenome structure and regulation
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Publications (22)

|May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jan 29, 2026
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Massimo Ganassi, Claudia Strafella, Marco Savarese

|Nov 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Milla Laarne, Manu Jokela, Fang Zhao

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Apr 14, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Joshua S Clayton, Mridul Johari, Rhonda L Taylor

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Frequent Collaborators

8 joint publications

Marco Savarese

5 joint publications

Per-Harald Jonson

5 joint publications

Gianina Ravenscroft

4 joint publications

Chiara Folland