| SpliceVault predicts the precise nature of variant-associated mis-splicing R Dawes, AM Bournazos, SJ Bryen, S Bommireddipalli, RG Marchant, ... Nature Genetics 55 (2), 324-332, 2023 | 35 | 2023 |
| Genome Sequencing for Diagnosing Rare Diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 12 | 2024 |
| Unique capabilities of genome sequencing for rare disease diagnosis MH Wojcik, G Lemire, MS Zaki, M Wissman, W Win, S White, B Weisburd, ... medRxiv, 2023.08. 08.23293829, 2023 | 5 | 2023 |
| Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint KY Zhang, H Joshi, RG Marchant, SJ Bryen, R Dawes, M Yuen, ... European Journal of Human Genetics, 1-8, 2024 | 2 | 2024 |
| Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone RG Marchant, SJ Bryen, M Bahlo, A Cairns, KR Chao, A Corbett, ... Annals of Clinical and Translational Neurology, 2024 | 1 | 2024 |
| RNA variant assessment using transactivation and transdifferentiation EC Nicolas-Martinez, O Robinson, C Pflueger, A Gardner, MA Corbett, ... The American Journal of Human Genetics 111 (8), 1673-1699, 2024 | | 2024 |
| Cortar: quantifying and reporting variant associated mis-splicing from RNA-sequencing RG Marchant, AM Bournazos, H Joshi, ST Cooper Pathology 56, S21, 2024 | | 2024 |
Himanshu JoshiUniversity of Sydney在 sydney.edu.au 的电子邮件经过验证
