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Author

Shubham Basu

Institution: Mayo Clinic
Observed institution: Mayo Clinic
ORCID: 0000-0002-4509-9046
Observed ORCID: 0000-0002-4509-9046
OpenAlex ID: A5020528376
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
2020 · Garrett Jenkinson, Yang I Li, et al. · Bioinformatics · 64
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
2019 · Gavin R. Oliver, Xiaojia Tang, et al. · PLoS ONE · 28
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Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy
2019 · Eric D. Wieben, Ross A. Aleff, et al. · PLoS ONE · 24
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Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy
2021 · Eric D. Wieben, Ross A. Aleff, et al. · PLoS ONE · 21
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An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
2019 · Cinthya J. Zepeda-Mendoza, Margot A. Cousin, et al. · Molecular Case Studies · 11
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MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning
2023 · Jagadheshwar Balan, Tejaswi Koganti, et al. · Journal of Molecular Diagnostics · 8
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Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
2024 · Cody J. Artymiuk, Shubham Basu, et al. · Journal of Molecular Diagnostics · 3
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
2025 · Parisa K. Kargaran, Qiliang Ding, et al. · Genetics in Medicine Open · 2
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data
2024 · Nipun A. Mistry, Samantha E. Roellinger, et al. · Journal of Molecular Diagnostics · 2
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
2019 · Gavin R. Oliver, Xiaojia Tang, et al. · 1
30. A cost-effective bioinformatics triage strategy for testing PMS2 using short-read next generation sequencing
2022 · Wei Shen, Tejaswi Koganti, et al. · Cancer Genetics
Works count: 11
Citation count: 161
H-index: 6
I10-index: 5
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