| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 428 | 2017 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 421 | 2020 |
| Structure of a bacterial homologue of vitamin K epoxide reductase W Li, S Schulman, RJ Dutton, D Boyd, J Beckwith, TA Rapoport Nature 463 (7280), 507-512, 2010 | 220 | 2010 |
| A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016 | 193 | 2016 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 189 | 2019 |
| Vitamin K epoxide reductase prefers ER membrane-anchored thioredoxin-like redox partners S Schulman, B Wang, W Li, TA Rapoport Proceedings of the National Academy of Sciences 107 (34), 15027-15032, 2010 | 169 | 2010 |
| The plug domain of the SecY protein stabilizes the closed state of the translocation channel and maintains a membrane seal W Li, S Schulman, D Boyd, K Erlandson, J Beckwith, TA Rapoport Molecular cell 26 (4), 511-521, 2007 | 165 | 2007 |
| Processing and turnover of the Hedgehog protein in the endoplasmic reticulum X Chen, H Tukachinsky, CH Huang, C Jao, YR Chu, HY Tang, B Mueller, ... Journal of Cell Biology 192 (5), 825-838, 2011 | 159 | 2011 |
| A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss S Stritt, P Nurden, E Turro, D Greene, SB Jansen, SK Westbury, ... Blood, The Journal of the American Society of Hematology 127 (23), 2903-2914, 2016 | 154 | 2016 |
| Determining the conductance of the SecY protein translocation channel for small molecules SM Saparov, K Erlandson, K Cannon, J Schaletzky, S Schulman, ... Molecular cell 26 (4), 501-509, 2007 | 144 | 2007 |
| Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders SK Westbury, E Turro, D Greene, C Lentaigne, AM Kelly, TK Bariana, ... Genome medicine 7, 1-15, 2015 | 139 | 2015 |
| Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ... Circulation 136 (21), 2022-2033, 2017 | 128 | 2017 |
| A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies E Turro, D Greene, A Wijgaerts, C Thys, C Lentaigne, TK Bariana, ... Science translational medicine 8 (328), 328ra30-328ra30, 2016 | 112 | 2016 |
| Tie2 protects the vasculature against thrombus formation in systemic inflammation SJ Higgins, K De Ceunynck, JA Kellum, X Chen, X Gu, SA Chaudhry, ... The Journal of clinical investigation 128 (4), 1471-1484, 2018 | 100 | 2018 |
| Responses to the multitargeted MET/ALK/ROS1 inhibitor crizotinib and co-occurring mutations in lung adenocarcinomas with MET amplification or MET exon 14 skipping mutation SE Jorge, S Schulman, JA Freed, PA VanderLaan, D Rangachari, ... Lung cancer 90 (3), 369-374, 2015 | 90 | 2015 |
| Extracellular thiol isomerases and their role in thrombus formation S Schulman, P Bendapudi, A Sharda, V Chen, L Bellido-Martin, R Jasuja, ... Antioxidants & redox signaling 24 (1), 1-15, 2016 | 73 | 2016 |
| Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data JHR Farmery, ML Smith, AG Lynch Scientific reports 8 (1), 1300, 2018 | 68 | 2018 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 63 | 2018 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 60 | 2019 |
| How I treat recurrent venous thromboembolism in patients receiving anticoagulant therapy S Schulman Blood, The Journal of the American Society of Hematology 129 (25), 3285-3293, 2017 | 54 | 2017 |
