| 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 | 435 | 2017 |
| Targeting of antithrombin in hemophilia A or B with RNAi therapy KJ Pasi, S Rangarajan, P Georgiev, T Mant, MD Creagh, T Lissitchkov, ... New England Journal of Medicine 377 (9), 819-828, 2017 | 382 | 2017 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort. SKGC Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA ... Nature 583 (7814), 2020 | 193 | 2020 |
| Germline selection shapes human mitochondrial DNA diversity GPRDP 100, ... Science 364 (6442), 749, 2019 | 193* | 2019 |
| Gene therapy with etranacogene dezaparvovec for hemophilia B SW Pipe, FWG Leebeek, M Recht, NS Key, G Castaman, W Miesbach, ... New England Journal of Medicine 388 (8), 706-718, 2023 | 161 | 2023 |
| 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 | 129 | 2017 |
| New anticoagulants: how to deal with treatment failure and bleeding complications RS Kazmi, BA Lwaleed British journal of clinical pharmacology 72 (4), 593-603, 2011 | 97 | 2011 |
| Early identification and prognostic implications in disseminated intravascular coagulation through transmittance waveform analysis C Downey, R Kazmi, CH Toh Thrombosis and haemostasis 80 (07), 65-69, 1998 | 89 | 1998 |
| Novel and diagnostically applicable information from optical waveform analysis of blood coagulation in disseminated intravascular coagulation C Downey, R Kazmi, CH Toh British journal of haematology 98 (1), 68-73, 1997 | 88 | 1997 |
| Homeostasis of hemostasis: the role of endothelium RS Kazmi, S Boyce, BA Lwaleed Seminars in thrombosis and hemostasis 41 (06), 549-555, 2015 | 70 | 2015 |
| Global seroprevalence of pre-existing immunity against AAV5 and other AAV serotypes in people with hemophilia A R Klamroth, G Hayes, T Andreeva, K Gregg, T Suzuki, IH Mitha, ... Human gene therapy 33 (7-8), 432-441, 2022 | 69 | 2022 |
| 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 | 69 | 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 | 62 | 2019 |
| Platelet function in pre-eclampsia RS Kazmi, AJ Cooper, BA Lwaleed Seminars in thrombosis and hemostasis 37 (02), 131-136, 2011 | 55 | 2011 |
| Recombinant ADAMTS13 reduces abnormally up-regulated von Willebrand factor in plasma from patients with severe COVID-19 PL Turecek, RC Peck, S Rangarajan, C Reilly-Stitt, MA Laffan, R Kazmi, ... Thrombosis research 201, 100-112, 2021 | 47 | 2021 |
| De novo truncating mutations in WASF1 cause intellectual disability with seizures Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ... The American Journal of Human Genetics 103 (1), 144-153, 2018 | 38 | 2018 |
| Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia TK Bariana, V Labarque, J Heremans, C Thys, M De Reys, D Greene, ... Haematologica 104 (5), 1036, 2019 | 35 | 2019 |
| Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration G Arno, KJ Carss, S Hull, C Zihni, AG Robson, A Fiorentino, G Black, ... The American Journal of Human Genetics 100 (2), 334-342, 2017 | 31 | 2017 |
| Gastrointestinal Bleeding and Aortic Stenosis (H eyde Syndrome): The Role of Aortic Valve Replacement RA Saad, BA Lwaleed, RS Kazmi Journal of Cardiac Surgery: Including Mechanical and Biological Support for …, 2013 | 27 | 2013 |
