Key Publications

Blue GM, Kirk E, Giannoulatou E, Dunwoodie SL, Ho JWK, Hilton DC, White SM, Sholler G, Harvey RP, Winlaw D (2014) Targeted Next Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease. J Am Coll Cardiol 64: 2498-2506

Kasparian NA, Rutstein A, Sansom-Daly UM, Mireskandari S, Tyler J, Duffy J and Tucker KM (2014) Through the looking glass: An exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease. European Journal of Human Genetics

Orr Y, Leclair K, Jacobe S, Badawi N, Nicholson IA, Chard RB, Sholler GF, Winlaw DS (2013) Early outcomes from a new regional programme for the surgical management of hypoplastic left heart syndrome. ANZ Journal of Surgery 19 [Epub]

Ingles J, Sarina T, Kasparian NA, Semsarian C (2013) Psychological well-being and post-traumatic stress associated with implantable cardioverter defibrillator therapy in young patients with genetic heart disease. International Journal of Cardiology 168(4):3779-3784

Alexander PM, Daubeney PE, Nugent AW, Lee KJ, Turner C, Colan SD, Robertson T, Davis AM, Ramsay J, Justo R, Sholler GF, King I, Weintraub RG (2013) Long-term outcomes of dilated cardiomyopathy diagnosed during childhood: results from a national population-based study of childhood cardiomyopathy. Circulation 128(18):2039-2046.

Iyengar AJ, Winlaw DS, Galati JC, Celermajer DS, Wheaton GR, Gentles TL, Grigg LE, Weintraub RG, Bullock A, Justo RN, d'Udekem Y (2013) Trends in Fontan surgery and risk factors for early adverse outcomes after Fontan surgery: The Australia and New Zealand Fontan Registry experience. Journal of Thoracic and Cardiovascular Surgery [Epub]

Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, et al. (2013) Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet 45(7):822-4.

Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw Det al. (2013) Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 22(7):1473-81

Kasparian NA, Fidock B, Sholler GF, Camphausen C, Murphy D, Cooper S, Kaul R, Jones O, Winlaw DS, Kirk EP (2013) Parents’ perceptions of genetics services for congenital heart disease and the role of sociodemographic, clinical and psychological factors in determining service attendance. Genetics in Medicine

Skilton MR, Marks GB, Ayer JG, Garden FL, Garnett SP, Harmer JA, Leeder SR, Toelle BG, Webb K, Baur LA, Celermajer DS (2013) Weight gain in infancy and vascular risk factors in later childhood. Pediatrics 131(6):e1821-8