Sarah Silverstein

4PUBLICATIONS
18CO-AUTHORS
Medical devicesNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Metabolic medicine
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Publications (4)

|Jul 02, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

|Feb 06, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

|Dec 25, 2025
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.

Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein

|Dec 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Thomas Cassini, Sarah Silverstein, Molly Behan

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Frequent Collaborators

2 joint publications

David R Adams

2 joint publications

Kaushik Ram Ganapathy

2 joint publications

Carsten G Bönnemann

2 joint publications

A Reghan Foley