Mridul Johari

A comprehensive framework for the interpretation of TTN missense variants

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

This study identifies dysregulation of calcium homeostasis and T-cell apoptosis in IBM through transcriptomic analysis of muscle biopsies.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.