Vijay S Ganesh

7PUBLICATIONS
107CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesNeurosciences not elsewhere classifiedGene mapping
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Publications (7)

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

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

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

|Jan 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Mar 18, 2024
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron

|Feb 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Ben Weisburd, Rakshya Sharma, Villem Pata

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Frequent Collaborators

5 joint publications

Anne O'Donnell-Luria

4 joint publications

Ben Weisburd

3 joint publications

Carsten G Bönnemann

3 joint publications

Monica Wojcik