Dr Kathy Wu
Conjoint Associate Professor

Dr Kathy Wu

MBBS, MMed, FRACP (AMD), Clinical Geneticist (HGSA) 

Medicine & Health
School of Clinical Medicine
8382 4899
Dr Kathy Wu, MBBS, MMed, FRACP, HGSA (Clinical Genetics) Clinical Lead | Clinical Genomics Unit | St Vincent's Hospital Clinical Senior Lecturer, University of Sydney | Conjoint Senior Lecturer, UNSW Translational Research Centre, 97-105 Boundary Street, Darlinghurst NSW 2010
  • Journal articles | 2023
    McLean A; Tchan M; Devery S; Smyth R; Shrestha R; Kumar KR; Tomlinson S; Tisch S; Wu KHC, 2023, 'Informing a value care model: lessons from an integrated adult neurogenomics clinic', Internal Medicine Journal, http://dx.doi.org/10.1111/imj.16103
    Journal articles | 2023
    Rafehi H; Read J; Szmulewicz DJ; Davies KC; Snell P; Fearnley LG; Scott L; Thomsen M; Gillies G; Pope K; Bennett MF; Munro JE; Ngo KJ; Chen L; Wallis MJ; Butler EG; Kumar KR; Wu KH; Tomlinson SE; Tisch S; Malhotra A; Lee-Archer M; Dolzhenko E; Eberle MA; Roberts LJ; Fogel BL; Brüggemann N; Lohmann K; Delatycki MB; Bahlo M; Lockhart PJ, 2023, 'An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14', American Journal of Human Genetics, 110, pp. 105 - 119, http://dx.doi.org/10.1016/j.ajhg.2022.11.015
    Journal articles | 2022
    Grosz BR; Tisch S; Tchan MC; Fung VSC; Darveniza P; Fellner A; Kurian MA; McLean A; Tomlinson SE; Smyth R; Devery S; Wu KHC; Kennerson ML; Kumar KR, 2022, 'A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing', Molecular Genetics and Genomic Medicine, 10, http://dx.doi.org/10.1002/mgg3.1923
    Journal articles | 2022
    Moxham R; Greenfield JR; Viardot A; Wu KHC, 2022, 'Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?', Internal Medicine Journal, 52, pp. 2011 - 2012, http://dx.doi.org/10.1111/imj.15948
    Journal articles | 2021
    Austin R; Quinn MCJ; Afoakwah C; Metke-Jimenez A; Leroux H; Atherton J; Brown JS; Wornham LJ; Macciocca I; de Silva MG; Thompson T; Martin EM; Hilton D; Devery S; Wu KHC; Jackson MR; Correnti G; Overkov A; Elbracht-Leong S; Ingles J; Scuffham P; Semsarian C; McGaughran J, 2021, 'Investigation of current models of care for genetic heart disease in Australia: A national clinical audit', International Journal of Cardiology, 330, pp. 128 - 134, http://dx.doi.org/10.1016/j.ijcard.2021.02.010
    Journal articles | 2021
    Ferkh A; Whalley D; Warwick N; Sivasubramaniam V; Wu KHC; Thomas L; Kovoor P, 2021, 'Left Atrial Cardiomyopathy with Left Atrial Thrombus despite Sinus Rhythm in a Patient with Severe Ventricular Cardiomyopathy Requiring Cardiac Transplantation.', CASE (Phila), 5, pp. 243 - 251, http://dx.doi.org/10.1016/j.case.2021.03.007
    Journal articles | 2021
    Yap JY; Moens L; Lin MW; Kane A; Kelleher A; Toong C; Wu KHC; Sewell WA; Phan TG; Hollway GE; Enthoven K; Gray PE; Casas-Martin J; Wouters C; De Somer L; Hershfield M; Bucciol G; Delafontaine S; Ma CS; Tangye SG; Meyts I, 2021, '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, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0
    Journal articles | 2020
    Fachal L; Aschard H; Beesley J; Barnes DR; Allen J; Kar S; Pooley KA; Dennis J; Michailidou K; Turman C; Soucy P; Lemaçon A; Lush M; Tyrer JP; Ghoussaini M; Marjaneh MM; Jiang X; Agata S; Aittomäki K; Alonso MR; Andrulis IL; Anton-Culver H; Antonenkova NN; Arason A; Arndt V; Aronson KJ; Arun BK; Auber B; Auer PL; Azzollini J; Balmaña J; Barkardottir RB; Barrowdale D; Beeghly-Fadiel A; Benitez J; Bermisheva M; Bialkowska K; Blanco AM; Blomqvist C; Blot W; Bogdanova NV; Bojesen SE; Bolla MK; Bonanni B; Borg A; Bosse K; Brauch H; Brenner H; Briceno I; Brock IW; Brooks-Wilson A; Brüning T; Burwinkel B; Buys SS; Cai Q; Caldés T; Caligo MA; Camp NJ; Campbell I; Canzian F; Carroll JS; Carter BD; Castelao JE; Chiquette J; Christiansen H; Chung WK; Claes KBM; Clarke CL; Mari V; Berthet P; Castera L; Vaur D; Lallaoui H; Bignon YJ; Uhrhammer N; Bonadona V; Lasset C; Révillion F; Vennin P; Muller D; Gomes DM; Ingster O; Coupier I; Pujol P; Collonge-Rame MA; Mortemousque I; Bera O; Rose M; Baurand A; Bertolone G; Faivre L; Dreyfus H; Leroux D; Venat-Bouvet L; Bézieau S; Delnatte C; Chiesa J; Gilbert-Dussardier B; Gesta P; Prieur FP, 2020, 'Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes', Nature Genetics, 52, pp. 56 - 73, http://dx.doi.org/10.1038/s41588-019-0537-1
    Journal articles | 2020
    Hussain I; Jin RR; Baum HBA; Greenfield JR; Devery S; Xing C; Hegele RA; Carranza-Leon BG; Linton MF; Vuitch F; Wu KHC; Precioso DR; Oshima J; Agarwal AK; Garg A, 2020, 'Multisystem progeroid syndrome with lipodystrophy, cardiomyopathy, and nephropathy due to an LMNA p.R349W variant', Journal of the Endocrine Society, 4, http://dx.doi.org/10.1210/jendso/bvaa104
    Journal articles | 2020
    Kumar KR; Cortese A; Tomlinson SE; Efthymiou S; Ellis M; Zhu D; Stoll M; Dominik N; Tisch S; Tchan M; Wu KHC; Devery S; Spring PJ; Hawke S; Cremer P; Ng K; Reilly MM; Nicholson GA; Houlden H; Kennerson M, 2020, 'RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome', Brain, 143, pp. 82, http://dx.doi.org/10.1093/brain/awaa244
    Journal articles | 2020
    Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Cai F; Dai P; Parker A; Qiu M; Miley W; Roshan R; Marshall V; Whitby D; Wegman E; Garsia R; Wu KHC; Kirk E; Polizzotto M; Deenick EK; Tangye SG; Ma CS; CIRCA ; Phan TG, 2020, 'Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency', Journal of Clinical Immunology, 40, pp. 774 - 779, http://dx.doi.org/10.1007/s10875-020-00804-8
    Journal articles | 2019
    Dai P; Furlong T; Gracie G; Huang ML; Yang T; Wu KHC; Danta M; Wong M; Williams A; March L; Hetherington M; Heyworth-Smith D; Phan TG, 2019, 'Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation', Journal of Clinical Immunology, 39, pp. 519 - 522, http://dx.doi.org/10.1007/s10875-019-00646-z
    Journal articles | 2019
    Libianto R; Wu KH; Devery S; Eisman JA; Center JR, 2019, 'KBG syndrome presenting with brachydactyly type E', Bone, 123, pp. 18 - 22, http://dx.doi.org/10.1016/j.bone.2019.03.012
    Journal articles | 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; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944
    Journal articles | 2007
    Wu KHC; Tan AG; Rochtchina E; Favaloro EJ; Williams A; Mitchell P; Wang JJ, 2007, 'Circulating inflammatory markers and hemostatic factors in age-related maculopathy: A population-based case-control study', Investigative Ophthalmology and Visual Science, 48, pp. 1983 - 1988, http://dx.doi.org/10.1167/iovs.06-0223
  • Preprints | 2022
    Rafehi H; Read J; Szmulewicz D; Davies K; Snell P; Fearnley L; Scott L; Thomsen M; Gillies G; Pope K; Bennett M; Munro J; Ngo K; Chen L; Wallis M; Butler E; Kumar K; Wu KHC; Tomlinson S; Tisch S; Malhotra A; Lee-Archer M; Dolzhenko E; Eberle M; Roberts L; Fogel B; Brüggemann N; Lohmann K; Delatycki M; Bahlo M; Lockhart P, 2022, A novel intronic GAA repeat expansion inFGF14causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14), , http://dx.doi.org/10.1101/2022.10.21.22281020
    Conference Posters | 2021
    McLean A; Tchan M; Devery S; Smyth R; Kumar K; Tomlinson S; Tisch S; Wu K, 2021, '087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre', presented at ANZAN Annual Scientific Meeting 2021 Abstracts, http://dx.doi.org/10.1136/bmjno-2021-anzan.87
    Conference Abstracts | 2018
    Hollway G; Bakshi M; Colley A; Ewans L; Ohnesorg T; Lee E; Kirk E; Lau C; Wu K; Richardson E; Statham A; Burnett L; Lundie B; Dinger M, 2018, 'Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400128&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1