| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 799 | 2017 |
| 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 | 409 | 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 | 392 | 2020 |
| Isolated adrenal masses in nonsmall-cell bronchogenic carcinoma. TW Oliver Jr, ME Bernardino, JI Miller, K Mansour, D Greene, WA Davis Radiology 153 (1), 217-218, 1984 | 352 | 1984 |
| Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ... Journal of allergy and clinical immunology 142 (4), 1285-1296, 2018 | 208 | 2018 |
| 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 | 189 | 2016 |
| Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses S Spencer, S Köstel Bal, W Egner, H Lango Allen, SI Raza, CA Ma, ... Journal of Experimental Medicine 216 (9), 1986-1998, 2019 | 163 | 2019 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 162 | 2020 |
| Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders K Downes, K Megy, D Duarte, M Vries, J Gebhart, S Hofer, O Shamardina, ... Blood, The Journal of the American Society of Hematology 134 (23), 2082-2091, 2019 | 159 | 2019 |
| 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 | 148 | 2016 |
| 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 | 143 | 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 | 124 | 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 | 109 | 2016 |
| ontologyX: a suite of R packages for working with ontological data D Greene, S Richardson, E Turro Bioinformatics 33 (7), 1104-1106, 2017 | 100 | 2017 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 97 | 2020 |
| Accuracy of ultrasonography for renal stone detection and size determination: is it good enough for management decisions? V Ganesan, S De, D Greene, FCM Torricelli, M Monga BJU international 119 (3), 464-469, 2017 | 97 | 2017 |
| Comparison of a reduced radiation fluoroscopy protocol to conventional fluoroscopy during uncomplicated ureteroscopy DJ Greene, CF Tenggadjaja, RJ Bowman, G Agarwal, KY Ebrahimi, ... Urology 78 (2), 286-290, 2011 | 75 | 2011 |
| Phenotype similarity regression for identifying the genetic determinants of rare diseases D Greene, S Richardson, E Turro The American Journal of Human Genetics 98 (3), 490-499, 2016 | 69 | 2016 |
| 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 | 60 | 2018 |
| Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia S Sivapalaratnam, SK Westbury, JC Stephens, D Greene, K Downes, ... Blood, The Journal of the American Society of Hematology 129 (4), 520-524, 2017 | 60 | 2017 |
Yaw A. NyameAssistant Professor, Fred Hutch Cancer Center, University of WashingtonVerified email at uw.edu
