Dr Kathy Wu
Conjoint Associate Professor

Dr Kathy Wu

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

Medicine & Health
School of Clinical Medicine
Phone
8382 4899
Location
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 | 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, vol. 10, http://dx.doi.org/10.1002/mgg3.1923
    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, vol. 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), vol. 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, vol. 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0
    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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 123, pp. 18 - 22, http://dx.doi.org/10.1016/j.bone.2019.03.012
  • 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