By Dr Kathy Hui-Ching Wu

Journal articles

De Sousa SMC; Wu KHC; Colclough K; Rawlings L; Dubowsky A; Monnik M; Poplawski N; Scott HS; Horowitz M; Torpy DJ, 2024, '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', Acta Diabetologica, 61, pp. 181 - 188, http://dx.doi.org/10.1007/s00592-023-02193-x

Moxham R; Tjokrowidjaja A; Devery S; Smyth R; McLean A; Roberts DM; Wu KHC, 2023, 'Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting', World Journal of Medical Genetics, 11, pp. 39 - 50, http://dx.doi.org/10.5496/wjmg.v11.i4.39

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, 53, pp. 2198 - 2207, http://dx.doi.org/10.1111/imj.16103

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, 'Erratum: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (The American Journal of Human Genetics (2023) 110(1) (105–119), (S0002929722005067), (10.1016/j.ajhg.2022.11.015))', American Journal of Human Genetics, 110, pp. 1018, http://dx.doi.org/10.1016/j.ajhg.2023.05.005

Krishnan A; Wu K; Girgis L; Pamphlett R; Tomlinson S; Muthiah K, 2023, 'A mitochondrial cytopathy presenting with persistent troponin elevation: case report', European Heart Journal - Case Reports, 7, pp. ytad132, http://dx.doi.org/10.1093/ehjcr/ytad132

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

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

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

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

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

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

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

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

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

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

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

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

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

Wu K; Kirk J, 2015, 'Hereditary colorectal cancer what you need to know what you need to know', Medicine Today, 16, pp. 20 - 29

Wu KHC; Kohn MR; Turner A; Sillence DO, 2012, 'A common presentation of a rare genetic disorder clinically mimicking primary myopathy', Adolescent Medicine: State of the Art Reviews, 23, pp. 393 - 401

Chan A; Blumenkranz MS; Wu KHC; Wang G; Berker N; Parast LM; Sanislo SR, 2009, 'Photodynamic therapy with and without adjunctive intravitreal triamcinolone acetonide: A retrospective comparative study', Ophthalmic Surgery Lasers and Imaging, 40, pp. 561 - 569, http://dx.doi.org/10.3928/15428877-20091030-05

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

Lin RJ; Blumenkranz MS; Binkley J; Wu K; Vollrath D, 2006, 'A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy', American Journal of Ophthalmology, 142, http://dx.doi.org/10.1016/j.ajo.2006.06.003

Wu KHC; Marmor MF, 2005, 'Alcohol- and light-induced electro-oculographic responses in age-related macular degeneration & central serous chorioretinopathy. Alcohol- and light-induced EOG responses in ARMD & CSC', Documenta Ophthalmologica, 110, pp. 237 - 246, http://dx.doi.org/10.1007/s10633-005-0649-z

Marmor MF; Wu KHC, 2005, 'Alcohol- and light-induced electro-oculographic responses: Variability and clinical utility', Documenta Ophthalmologica, 110, pp. 227 - 236, http://dx.doi.org/10.1007/s10633-005-0648-0

Wu KHC; Wang JJ; Rochtchina E; Foran S; Ng MKC; Mitchell P, 2004, 'Angiotensin-converting enzyme inhibitors (ACEIs) and age-related maculopathy (ARM): Cross-sectional findings from the blue mountains eye study', Acta Ophthalmologica Scandinavica, 82, pp. 298 - 303, http://dx.doi.org/10.1111/j.1600-0420.2004.00265.x

Wu KHC; Madigan MC; Billson FA; Penfold PL, 2003, 'Differential expression of GFAP in early vs late AMD: A quantitative analysis', British Journal of Ophthalmology, 87, pp. 1159 - 1166

Conference Papers

Yeow D; Rudaks LI; García-Marín LM; Flores-Ocampo V; Morales-Briceño H; Yau WY; Kõks S; Mellick GD; Fung VSC; Tisch S; Wu KHC; Schofield D; Willis AM; Klein C; Sue CM; Davis RL; Young M-A; Rentería ME; Kumar KR, 2024, '3039 Monogenic Parkinson’s Disease Australia (MonoPDAus) initiative: study protocol', in Poster Abstracts, BMJ Publishing Group Ltd, pp. A22.2 - A23, presented at ANZAN Annual Scientific Meeting 2024 Abstracts, http://dx.doi.org/10.1136/bmjno-2024-anzan.60

Wu KHC; Penfold PL; Billson FA, 2002, 'Effects of post-mortem delay and storage duration on the expression of GFAP in normal human adult retinae', in Clinical and Experimental Ophthalmology, pp. 200 - 207, http://dx.doi.org/10.1046/j.1442-9071.2002.00515.x

Conference Posters

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', pp. A32.1 - A32, presented at ANZAN Annual Scientific Meeting 2021 Abstracts, http://dx.doi.org/10.1136/bmjno-2021-anzan.87

Conference Abstracts

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

Preprints

Rafehi H; Fearnley LG; Read J; Snell P; Davies KC; Scott L; Gillies G; Thompson GC; Field TA; Eldo A; Bodek S; Butler E; Chen L; Drago J; Goel H; Hackett A; Halmagyi GM; Hannaford A; Kotschet K; Kumar KR; Kumble S; Lee-Archer M; Malhotra A; Paine M; Poon M; Pope K; Reardon K; Ring S; Ronan A; Silsby M; Smyth R; Stutterd C; Wallis M; Waterston J; Wellings T; West K; Wools C; Wu KHC; Szmulewicz DJ; Delatycki MB; Bahlo M; Lockhart PJ, 2024, Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia, http://dx.doi.org/10.1101/2024.07.08.24309939

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

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