Sarah Silverstein

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.

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.

ANEVA-h improves detection of rare regulatory variants by analyzing haplotype-level ASE data, increasing testable genes and reducing false positives in GTEx and clinical cohorts.

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.

The paper creates a humanized knock-in mouse model with a deep-intronic splice-activating variant to test antisense therapeutics for Collagen VI-related muscular dystrophies.

This study identifies dysregulation of the TGFβ pathway in a mouse model of collagen VI-related disorders, linking ECM collagen VI deficiency to altered TGFβ bioavailability and muscle dysfunction.