| Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland L Zhao, F Wang, H Wang, Y Li, S Alexander, K Wang, CE Willoughby, ... Human genetics 134, 217-230, 2015 | 103 | 2015 |
| Comprehensive molecular diagnosis of a large Chinese Leber congenital amaurosis cohort H Wang, X Wang, X Zou, S Xu, H Li, ZT Soens, K Wang, Y Li, F Dong, ... Investigative ophthalmology & visual science 56 (6), 3642-3655, 2015 | 89 | 2015 |
| Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles PM Boone, IM Campbell, BC Baggett, ZT Soens, MM Rao, PM Hixson, ... Genome research 23 (9), 1383-1394, 2013 | 80 | 2013 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 70 | 2017 |
| Incidental copy-number variants identified by routine genome testing in a clinical population PM Boone, ZT Soens, IM Campbell, P Stankiewicz, SW Cheung, A Patel, ... Genetics in medicine 15 (1), 45-54, 2013 | 48 | 2013 |
| Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 ZT Soens, Y Li, L Zhao, A Eblimit, R Dharmat, Y Li, Y Chen, M Naqeeb, ... Genetics in Medicine 18 (10), 1044-1051, 2016 | 38 | 2016 |
| Molecular screening of 43 Brazilian families diagnosed with Leber congenital amaurosis or early-onset severe retinal dystrophy FBO Porto, EM Jones, J Branch, ZT Soens, IM Maia, IFG Sena, ... Genes 8 (12), 355, 2017 | 33 | 2017 |
| Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain … ZT Soens, J Branch, S Wu, Z Yuan, Y Li, H Li, K Wang, M Xu, L Rajan, ... Human mutation 38 (11), 1521-1533, 2017 | 31 | 2017 |
| The phenotypic variability of HK1-associated retinal dystrophy Z Yuan, B Li, M Xu, EY Chang, H Li, L Yang, S Wu, ZT Soens, Y Li, ... Scientific reports 7 (1), 7051, 2017 | 23 | 2017 |
| Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes L Zhao, Y Chen, AO Bajaj, A Eblimit, M Xu, ZT Soens, F Wang, Z Ge, ... Genome research 26 (5), 660-669, 2016 | 22 | 2016 |
| GRIPT: a novel case-control analysis method for Mendelian disease gene discovery J Wang, L Zhao, X Wang, Y Chen, M Xu, ZT Soens, Z Ge, PR Wang, ... Genome biology 19, 1-20, 2018 | 4 | 2018 |
| Pathogenic germline variants in multiple myeloma S Thibaud, A Etra, R Subaran, Z Soens, S Newman, R Chen, A Chari, ... Blood 138, 399, 2021 | 2 | 2021 |
| Assessment of Germline Splice Variants in Tumor Sequencing E Bogdanova, Z Soens, A Silkov, R Chen, L Edelman, B Funke, ... JOURNAL OF MOLECULAR DIAGNOSTICS 24 (10), S125-S125, 2022 | | 2022 |
| P-063: Pathogenic germline variants in hereditary cancer genes in patients with Multiple Myeloma S Thibaud, A Etra, R Subaran, Z Soens, S Newman, R Chen, A Chari, ... Clinical Lymphoma Myeloma and Leukemia 21, S73, 2021 | | 2021 |
| Heritable cancer mutations in multiple myeloma S Thibaud, A Etra, R Subaran, Z Soens, S Newman, R Chen, A Chari, ... Cancer Research 81 (13_Supplement), 868-868, 2021 | | 2021 |
| Detection and Interpretation of Canonical and Cryptic Splice Sites in Solid Tumors and Their Relevance to FDA Approved Therapies and Clinical Trials E Bogdanova, R Chen, Z Soens, L Tian, H Li, U Thirumurthi, O Siddiqui, ... JOURNAL OF MOLECULAR DIAGNOSTICS 22 (11), S77-S77, 2020 | | 2020 |
| VONC: A solution for the clinical assessment of somatic genomic alterations. R Kueffner, H Li, K Cheung, M Fink, Z Soens, J Wang, O Siddiqui, ... Journal of Clinical Oncology 37 (15_suppl), e13155-e13155, 2019 | | 2019 |
