| Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ... Nature genetics 45 (2), 136-144, 2013 | 1126 | 2013 |
| DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer DN Church, SEW Briggs, C Palles, E Domingo, SJ Kearsey, JM Grimes, ... Human molecular genetics 22 (14), 2820-2828, 2013 | 414 | 2013 |
| Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy K Abozguia, P Elliott, W McKenna, TT Phan, G Nallur-Shivu, I Ahmed, ... Circulation 122 (16), 1562-1569, 2010 | 394 | 2010 |
| Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1 E Jaeger, S Leedham, A Lewis, S Segditsas, M Becker, PR Cuadrado, ... Nature genetics 44 (6), 699-703, 2012 | 303 | 2012 |
| Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation D Wells, K Kaur, J Grifo, M Glassner, JC Taylor, E Fragouli, S Munne Journal of medical genetics 51 (8), 553-562, 2014 | 276 | 2014 |
| Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research J Ragoussis, GP Elvidge, K Kaur, S Colella PLoS genetics 2 (7), e100, 2006 | 171 | 2006 |
| VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5 D Szumska, G Pieles, R Essalmani, M Bilski, D Mesnard, K Kaur, ... Genes & development 22 (11), 1465-1477, 2008 | 164 | 2008 |
| A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS D Rosmarin, C Palles, A Pagnamenta, K Kaur, G Pita, M Martin, ... Gut 64 (1), 111-120, 2015 | 137 | 2015 |
| Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community … E Domingo, C Camps, PJ Kaisaki, MJ Parsons, D Mouradov, MM Pentony, ... The Lancet Gastroenterology & Hepatology 3 (9), 635-643, 2018 | 78 | 2018 |
| Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service A Hamblin, S Wordsworth, JM Fermont, S Page, K Kaur, C Camps, ... PLoS medicine 14 (2), e1002230, 2017 | 66 | 2017 |
| Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen D Bogani, C Willoughby, J Davies, K Kaur, G Mirza, A Paudyal, H Haines, ... Proceedings of the National Academy of Sciences 102 (35), 12477-12482, 2005 | 37 | 2005 |
| A Screening Test for HLA-B∗15:02 in a Large United States Patient Cohort Identifies Broader Risk of Carbamazepine-Induced Adverse Events H Fang, X Xu, K Kaur, M Dedek, G Zhu, BJ Riley, FG Espin, AL Del Tredici, ... Frontiers in Pharmacology 10, 149, 2019 | 32 | 2019 |
| Targeted next-generation sequencing of plasma DNA from cancer patients: factors influencing consistency with tumour DNA and prospective investigation of its utility for diagnosis PJ Kaisaki, A Cutts, N Popitsch, C Camps, MM Pentony, G Wilson, S Page, ... PloS one 11 (9), e0162809, 2016 | 32 | 2016 |
| Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies K Kaur, NK Ragge, J Ragoussis Molecular vision 15, 1366, 2009 | 26 | 2009 |
| Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations G Thanabalasingham, K Kaur, F Talbot, K Colclough, A Mathews, J Taylor, ... Diabetic Medicine 30 (8), e233-e238, 2013 | 14 | 2013 |
| A novel embryo screening technique provides new insights into embryo biology and yields the first pregnancies following genome sequencing D Wells, K Kaur, J Grifo, S Anderson, J Taylor, E Fragouli, S Munne Hum Reprod 28 (Suppl 1), i26, 2013 | 13 | 2013 |
| P1. 01 Identification of Prognostic Factors Using Image Analysis of HER2 Expression by Immunohistochemistry in Adenocarcinoma of the Oesophagogastric Junction TR Einert, G Schmidt, G Binnig Annals of Oncology 23, v12, 2012 | 3 | 2012 |
| Selective area tuberculosis surveys in Singapore 1978. YK Ng, CH Chen, EH Goh, CS So, A Hui, K Kaur, LK Lee, N Kuhadas, ... Annals of the Academy of Medicine, Singapore 10 (1), 50-55, 1981 | 3 | 1981 |
| Skin cancer risk is increased by somatic mutations detected noninvasively in healthy-appearing sun-exposed skin K Kaur, R Ai, AG Perry, B Riley, EL Roberts, EN Montano, J Han, ... Journal of Investigative Dermatology 144 (10), 2187-2196. e13, 2024 | 2 | 2024 |
| Whole-genome sequencing technology for the assessment of embryo genetics and viability D Wells, K Kaur, M Glassner, J Grifo, E Fragouli, S Munne Fertility and Sterility 100 (3), S132-S133, 2013 | 1 | 2013 |
