2025
- Davies K, ..Wu KHCet al. Comprehensive characterisation of theRFC1 repeat in an Australian cohort. Submitted toCerebellumMarch 2025.
- De SousaS,..Wu KHCet al. Australian and New Zealand Joint Society Position Statement on Genetic Testing for Monogenic Diabetes in Adults. Accepted for publication byMJA11 March 2025.
- De Sousa SMC, Phan JMN, Wells A,Wu KHC and Scott HS. Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance. Accepted for publication, Acta Diabetologica, January 2025.
2024
- Balasingam D, …andWu KHC. Mainstreaming Genomic Testing for Monogenic Diabetes: Feasibility, Outcome, and Validation Study. Submitted toDiabetes Research and Clinical Practice, December 2024.
- Rafehi H, ..Wu KHCet al. A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.Accepted for publication,Genome Research, November 2024.
- Zochowski Y, Kumar K,...Wu KHC and Tisch S. Case series of cerebellar ataxia with tremor due toSTUB1 (SCA 48) without TBP expansions: further evidence forSTUB1 as a monogenic disease. Accepted for publication,Cerebellum, November 2024.
- Wang Y,…Wu KHC et al. Fast and Fragile: An Unseen Danger – A case of left atrial cardiomyopathy proceeding left atrial dissection. Accepted for publication,HeartRhythm Case Reports, November 2024.
- Austin R,..andAustralian Genomics Cardiovascular Disorders Flagship. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.Genet in Med Open 2024; 2: 101842.
2023
- Moxham R, Tjokrowidjaja A, Devery S, Smyth R, McLean A andWu KHC. Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting.World J Med Genet 2023 December 20; 11(4): 39-50.
- De Sousa SMC,Wu KHC et al. Identification of monogenic diabetes in an Australian cohort using the Exeter maturity‐onset diabetes of the young (MODY) probability calculator and next‐generation sequencing gene panel testing. Published online October 2023.Acta Diabetologica
- Rafehi H, …Wu KHC,…Bahlo M and Lockhart P. An intronic GAA repeat expansion inFGF14 causes the autosomal dominant adult-onset ataxia SCA50/ATX-FGF14.The American Journal of Human Genetics 2023;110(1):105-119.
- McLean A, Tchan M, Devery S, Smyth R, Shrestha R, Kumar K, Tomlinson S, Tisch S andWu KHC. Informing a value care model: Lessons from an integrated adult neurogenomics clinic.Intern Med J2023;53(12):2198-2207. doi: 10.1111/imj.16103.
- Krishnan A,Wu KHCet al. A mitochondrial cytopathy presenting with persistent troponin elevation: Case Report.European Heart Journal – Case Reports 2023;7(4):1-6.
2022
- Moxham R, Viardot A, Greenfield J andWu KHC. Tip of the iceberg: are we missing undiagnosed patients with Maturity Onset Diabetes of the Young (MODY)?Internal Medicine Journal, 2022 Nov;52(11):2011-2012.https://onlinelibrary.wiley.com/toc/14455994/current
- Grosz BR,…Wu KHCet al. A novel synonymous KMT2B variant results in aberrant splicing causing dystonia.Molecular Genetics & Genomic Medicine, 2022 May;10(5):e1923.
2021
- Yap JY, …Wu KHC et al. Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency.Journal of Clinical Immunology 2021;41(8):1915-1935.
- McLean A andWu KHC. Letter to the Editor on: Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.MJA 2021;215(8):384 e1.
- Ferkh A, Whalley D,..Wu KHC et al. Left atrial cardiomyopathy with left atrial thrombus despite sinus rhythm, in a patient with severe ventricular cardiomyopathy requiring cardiac transplantation.Cardiovascular Imaging Case Reports (CASE) 2021;5(4):243-251.
- Austin R, QuinnMCJ,…Wu KHC et al. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.International Journal of Cardiology 2021 May 1;330:128-134
2020
- Kumar KR, Cortese A…Wu KHC et al. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren’s syndrome.Brain 2020;143(10):e82.
- Yap JY; Gloss B,..Wu KHC,…and CIRCA Consortium. Everolimus-induced remission of classic Kaposi’s sarcoma secondary to cryptic splicing mediated CTLA4 haploinsufficiency.Journal of Clinical Immunology 2020;40(5):774-779.
- Hussain I, Jin R, Baum H, Greenfield JR, Devery S, Xing C, Hegele RA, Carranza-Leon BG, Linton MF, Vuitch F,Wu KHC, Agarwal AK, Garg A. A Multisystem Progeroid Syndrome with Lipodystrophy, Cardiomyopathy and Proteinuric Nephropathy due to heterozygousLMNAp.R349W Variant.Journal of the Endocrine Society 2020;4(10):1-17. (JIF 7.998, 4 Citations, 52nd percentile, FWCI 0.44)
2019
- Dai P, Furlong T, Gracie G, Huang M, Tao Yang T,Wu KHC, Danta D, Wong M, Williams A, March L, Hetherington M, Heyworth-Smith D, Phan T, and CIRCA Consortium. Autoinflammation masquerading as autoimmunity in an adult with heterozygous p.E250K PSTPIP1 mutation.Journal of Clinical Immunology 2019;39:519-522.(JIF 8.542, 8 Citations, 83rd percentile, FWCI 1.6
- Libiano R,Wu KHC, Devery S, Eisman J, Center J. KBG Syndrome Presenting with Brachydactyly Type E.Bone 2019;123:18-22(JIF 4.626, 4 Citations, 45th percentile, FWCI 0.36)
- Mavaddat N,…..kConFab/AOCS Investigators,….Easton DF. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.American Journal of Human Genetics 2019;104(1):21-34
2018
- Hollway G,…Wu K, et al.Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases.Human Genomics. 2018;12:23
2017
- De Sousa SMC, McCabe MJ,Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, MaCormack AI. Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.Eur J Endocrinol.2017 May;176(5):635-644. (JIF 6.558, 23 Citations, 83rd percentile, FWCI 1.6)
2015
- Wu KHCand Kirk J. Hereditary colorectal cancer: what you need to know.Medicine Today 2015;16(2):20-29
2012
- Wu KHC, Kohn MR, Turner A, Sillence DO. A common presentation of a rare genetic disorder clinically mimicking primary myopathy.Adolesc Med State Art Rev.2012;23(2):393-403
2006
- in RJ, Blumenkranz MS, Binkley J,Wu K, Vollrath D. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.Am J Ophthalmol. 2006;142(5):839-48.
