| LeafCutterMD: an algorithm for outlier splicing detection in rare diseases G Jenkinson, YI Li, S Basu, MA Cousin, GR Oliver, EW Klee Bioinformatics 36 (17), 4609-4615, 2020 | 45 | 2020 |
| A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease GR Oliver, X Tang, LE Schultz-Rogers, N Vidal-Folch, WG Jenkinson, ... PLoS One 14 (10), e0223337, 2019 | 29 | 2019 |
| Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy ED Wieben, RA Aleff, S Basu, V Sarangi, B Bowman, IJ McLaughlin, ... PLoS One 14 (7), e0219446, 2019 | 21 | 2019 |
| Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy ED Wieben, RA Aleff, TA Rinkoski, KH Baratz, S Basu, SV Patel, ... PloS one 16 (12), e0260837, 2021 | 7 | 2021 |
| An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I CJ Zepeda-Mendoza, MA Cousin, S Basu, G Jenkinson, G Oliver, ... Molecular Case Studies 5 (6), a004655, 2019 | 5 | 2019 |
| MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning J Balan, T Koganti, S Basu, MA Dina, CJ Artymiuk, EGB Fritcher, ... The Journal of Molecular Diagnostics 25 (8), 602-610, 2023 | 2 | 2023 |
| Reduction of Artifact Chimeric NGS Reads in DNA Extracted from FFPE Tissue Using S1 Nuclease C Artymiuk, S Basu, J Balan, X Wu, M Dina, R He, D Viswanatha JOURNAL OF MOLECULAR DIAGNOSTICS 24 (10), S143-S143, 2022 | 1 | 2022 |
| Clinical Validation of a Targeted Next Generation Sequencing Panel for Lymphoid Malignancies CJ Artymiuk, S Basu, T Koganti, P Tandale, J Balan, MA Dina, ... The Journal of Molecular Diagnostics, 2024 | | 2024 |
| Clinical Validation of Saliva Swab Specimens for Tagmentation-Based Whole-Genome Sequencing H Sellers, M Stein, S Basu, P Tandale, S Barnett, H Kearney, N Boczek, ... JOURNAL OF MOLECULAR DIAGNOSTICS 25 (11), S4-S4, 2023 | | 2023 |
| Comprehensive Analysis of Combined Variant Callers Manta, Pindel, and TNhaploytyper2 for Detection of SNVs and Indels in a Clinical Myeloid Neoplasm NGS Panel M Dina, S Basu, J Balan, P Tandale, T Koganti, C Artymiuk, K Bessonen, ... JOURNAL OF MOLECULAR DIAGNOSTICS 24 (10), S33-S33, 2022 | | 2022 |
| 30. A cost-effective bioinformatics triage strategy for testing PMS2 using short-read next generation sequencing W Shen, T Koganti, J Balan, P Tandale, S Basu, M Manninen, E Blake, ... Cancer Genetics 260, 10-11, 2022 | | 2022 |
| Microhaplotype Locus-Based Workflow for Sample Contamination Detection in Multiplexed Next-Generation Sequencing (NGS) Assays J Balan, D Viswanatha, S Basu, M Dina, C Artymiuk, M Mai, X Wu, R He JOURNAL OF MOLECULAR DIAGNOSTICS 22 (11), S49-S50, 2020 | | 2020 |
| Comparison of Capture-Based Next-Generation Sequencing Designs in a Clinical Myeloid Neoplasm Panel M Dina, X Wu, S Basu, J Balan, C Artymiuk, M Mai, R He, D Viswanatha JOURNAL OF MOLECULAR DIAGNOSTICS 22 (11), S12-S13, 2020 | | 2020 |
