Rotem Orbach

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

This study benchmarks RNA-seq tools for diagnostic applications, finding they identify 28 diagnoses from 68 samples but only 9 out of 74 undiagnosed cases.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

The paper identifies structural variants in the NEB gene across 35 families, showing large deletions cause dominant distal myopathy while recessive variants show no severity correlation.

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

The paper reports two patients with NEB-related congenital myopathy and describes how differential inclusion of NEB exons 143 and 144 affects disease manifestation and MRI patterns.