| Polygenic risk scores for prediction of breast cancer and breast cancer subtypes N Mavaddat, K Michailidou, J Dennis, M Lush, L Fachal, A Lee, JP Tyrer, ... The American Journal of Human Genetics 104 (1), 21-34, 2019 | 981 | 2019 |
| Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes L Fachal, H Aschard, J Beesley, DR Barnes, J Allen, S Kar, KA Pooley, ... Nature genetics 52 (1), 56-73, 2020 | 163 | 2020 |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 112 | 2023 |
| Circulating inflammatory markers and hemostatic factors in age-related maculopathy: a population-based case–control study KHC Wu, AG Tan, E Rochtchina, EJ Favaloro, A Williams, P Mitchell, ... Investigative ophthalmology & visual science 48 (5), 1983-1988, 2007 | 66 | 2007 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 57 | 2022 |
| A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy RJ Lin, MS Blumenkranz, J Binkley, K Wu, D Vollrath American journal of ophthalmology 142 (5), 839-848. e3, 2006 | 41 | 2006 |
| Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours SMC De Sousa, MJ McCabe, K Wu, T Roscioli, V Gayevskiy, K Brook, ... European journal of endocrinology 176 (5), 635-644, 2017 | 37 | 2017 |
| Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency JY Yap, L Moens, MW Lin, A Kane, A Kelleher, C Toong, KHC Wu, ... Journal of Clinical Immunology 41, 1915-1935, 2021 | 33 | 2021 |
| RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome KR Kumar, A Cortese, SE Tomlinson, S Efthymiou, M Ellis, D Zhu, M Stoll, ... Brain 143 (10), e82-e82, 2020 | 29 | 2020 |
| RAD51B in Familial Breast Cancer LM Pelttari, S Khan, M Vuorela, JI Kiiski, S Vilske, V Nevanlinna, S Ranta, ... PloS one 11 (5), e0153788, 2016 | 28 | 2016 |
| Photodynamic therapy with and without adjunctive intravitreal triamcinolone acetonide: a retrospective comparative study A Chan, MS Blumenkranz, KHC Wu, G Wang, N Berker, LM Parast, ... Ophthalmic Surgery, Lasers and Imaging Retina 40 (6), 561-569, 2009 | 14 | 2009 |
| Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant I Hussain, RR Jin, HBA Baum, JR Greenfield, S Devery, C Xing, ... Journal of the Endocrine Society 4 (10), bvaa104, 2020 | 12 | 2020 |
| Effects of post‐mortem delay and storage duration on the expression of GFAP in normal human adult retinae KHC Wu, PL Penfold, FA Billson Clinical & Experimental Ophthalmology 30 (3), 200-207, 2002 | 12 | 2002 |
| KBG syndrome presenting with brachydactyly type E R Libianto, KHC Wu, S Devery, JA Eisman, JR Center Bone 123, 18-22, 2019 | 11 | 2019 |
| Angiotensin‐converting enzyme inhibitors (ACEIs) and age‐related maculopathy (ARM): cross‐sectional findings from the Blue Mountains Eye Study KHC Wu, JJ Wang, E Rochtchina, S Foran, MKC Ng, P Mitchell Acta Ophthalmologica Scandinavica 82 (3p1), 298-303, 2004 | 11 | 2004 |
| Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation P Dai, T Furlong, G Gracie, ML Huang, T Yang, KHC Wu, M Danta, ... Journal of Clinical Immunology 39, 519-522, 2019 | 9 | 2019 |
| Alcohol-and light-induced electro-oculographic responses: variability and clinical utility MF Marmor, KHC Wu Documenta ophthalmologica 110, 227-236, 2005 | 9 | 2005 |
| Alcohol-and light-induced electro-oculographic responses in age-related macular degeneration & central serous chorioretinopathy: Alcohol-and light-induced EOG responses in ARMD … KHC Wu, MF Marmor Documenta ophthalmologica 110, 237-246, 2005 | 8 | 2005 |
| Investigation of current models of care for genetic heart disease in Australia: A national clinical audit R Austin, MCJ Quinn, C Afoakwah, A Metke-Jimenez, H Leroux, ... International Journal of Cardiology 330, 128-134, 2021 | 5 | 2021 |
| Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency JY Yap, B Gloss, M Batten, P Hsu, L Berglund, F Cai, P Dai, A Parker, ... Journal of clinical immunology 40, 774-779, 2020 | 5 | 2020 |
