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Mar 27 2020
Many people in our community are feeling worried about COVID-19, our team is here to support you. Please visit our dedicated COVID-19 informati...

Team Harley - City2Surf 2017

Jun 27 2017
Mum Danielle puts it beautifully: "Why we started Team Harley: To raise awareness for Congenital Heart Disease in memory of our amazing...

Halor's story

Jun 23 2017
One of our patients, Halor, was featured on The Children's Hospital at Westmead's Facebook page this week:     ...

Selected publications from staff at the Heart Centre for Children


Under review

Parents' perceptions of genetics services for congenital heart disease: The role of demographic, clinical and psychological factors in determining service attendance.
Kasparian NA, Fidock B, Sholler GF, Camphausen C, Murphy D, Cooper S, Kaul R, Jones O, Winlaw DS, Kirk EP.
Genetics in Medicine. Under review.

Psychological well-being and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young patients with genetic heart disease.
Ingles J, Sarina T, Kasparian NA, Semsarian C.
International Journal of Cardiology. Under review.



A Universal and Robust Integrated Platform for the Scalable Production of Human Cardiomyocytes From Pluripotent Stem Cells.
Fonoudi H, Ansari H, Abbasalizadeh S, Larijani MR, Kiani S, Hashemizadeh S, Zarchi AS, Bosman A, Blue GM, Pahlavan S, Perry M, Orr Y, Mayorchak Y, Vandenberg J, Talkhabi M, Winlaw DS, Harvey RP, Aghdami N, Baharvand H.
Stem Cells Transl Med. 2015 Oct 28. pii: sctm.2014-0275. [Epub ahead of print]

Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease.
Bosman A, Edel M, Blue G, Dilley R, Harvey R, Winlaw D.
Journal of Clinical Medicine. 2015;4(4):768-81.
PMID: 26239354

Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning.
Blue GM, Kasparian NA, Sholler GF, Kirk EP, Winlaw DS.
Int J Cardiol. 2015;178(0):124-30.
PMID: 25464235

Next generation sequencing in congenital heart disease: gene discovery and clinical application.
Blue GM, Winlaw DS.
Next Generat Sequenc & Applic. 2015; 2(1):113.



Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease.
Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JWK, Hilton DCK, White SM, Sholler GF, Harvey RP, Winlaw DS.
J Am Coll Cardiol. 2014;64(23):2498-506.
PMID: 25500235



Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
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, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD.
Nat Genet. 2013 Jul; 45 (7):822-4.
PMID: 23708191.

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
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 D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA.
Hum Mol Genet. 2013 Apr 1;22(7):1473-81.
PMID: 23297363.



Carotid extra-medial thickness in childhood: early life effects on the arterial adventitia.
Skilton MR, Sullivan TR, Ayer JG, Harmer JA, Toelle BG, Webb K, Marks GB, Celermajer DS.
Atherosclerosis. 2012 Jun;222(2):478-82. Epub 2012 Apr 3.
PMID: 22534523

Congenital heart disease: current knowledge about causes and inheritance.
Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS.
Med J Aust. 2012 Aug 6;197(3):155-9. Review.
PMID: 22860792

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.
PMID: 22939634

Early developmental outcomes following major noncardiac and cardiac surgery in term infants: a population-based study.
Walker K, Badawi N, Halliday R, Stewart J, Sholler GF, Winlaw DS, Sherwood M, Holland AJ.
J Pediatr. 2012 Oct;161(4):748-752.e1. doi: 10.1016/j.jpeds.2012.03.044. Epub 2012 May 10.
PMID: 22578999

Impaired fetal growth and arterial wall thickening: a randomized trial of -3 supplementation.
Skilton MR, Ayer JG, Harmer JA, Webb K, Leeder SR, Marks GB, Celermajer DS.
Pediatrics. 2012 Mar;129(3):e698-703. Epub 2012 Feb 20.
PMID: 22351892

Insensible water loss from the Hilite 2400LT oxygenator: an in vitro study.
Gill M, O'Shaughnessy K.
Perfusion. 2012 Oct 24. [Epub ahead of print]
PMID: 23095348

Outcomes of interventional electrophysiology in children under 2 years of age.
Turner CJ, Lau KC, Sholler GF.
Cardiol Young. 2012 Oct;22(5):499-506. doi: 10.1017/S1047951111001971. Epub 2011 Dec 19.
PMID: 22182314

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
Hum Mol Genet. 2012 Apr 1;21(7):1513-20. Epub 2011 Dec 22.
PMID: 22199024

The effect of dairy consumption on blood pressure in mid-childhood: CAPS cohort study.
Rangan AM, Flood VL, Denyer G, Ayer JG, Webb KL, Marks GB, Celermajer DS, Gill TP.
Eur J Clin Nutr. 2012 Jun;66(6):652-7. doi: 10.1038/ejcn.2011.218. Epub 2012 Jan 11.
PMID: 22234043



Congenital heart disease.
Sholler GF, Kasparian NA, Winlaw DS.
Australian Doctor.  2011: 27-34. Invited paper.

Fetal and post-natal diagnosis of major congenital heart disease: implications for medical and psychological care in the current era.
Sholler GF, Kasparian NA, Pye VE, Cole AD, Winlaw DS.
J Paediatr Child Health. 2011 Oct;47(10):717-22. doi: 10.1111/j.1440-1754.2011.02039.x. Epub 2011 Mar 30.
PMID: 21449901

Five-year analysis of operative mortality and neonatal outcomes in congenital heart disease.
Padley JR, Cole AD, Pye VE, Chard RB, Nicholson IA, Jacobe S, Baines D, Badawi N, Walker K, Scarfe G, Leclair K, Sholler GF, Winlaw DS.
Heart Lung Circ. 2011 Jul;20(7):460-7. Epub 2011 Apr 21.
PMID: 21514216

Hypoplastic left heart syndrome in context.
Winlaw DS, Badawi N, Jacobe S, Kasparian NA, Cooper SG, Murphy DN, Sherwood MC, Roberts P, Leclair K, Scarfe G, Sholler GF.
J Paediatr Child Health. 2012 Feb;48(2):E7-9. doi: 10.1111/j.1440-1754.2011.02084.x. Epub 2011 Apr 29.
PMID: 21535290

Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy.
Au CG, Butler TL, Sherwood MC, Egan JR, North KN, Winlaw DS.
Int J Exp Pathol. 2011 Feb;92(1):57-65. doi: 10.1111/j.1365-2613.2010.00750.x. Epub 2010 Dec 1.
PMID: 21121985

Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4.
Moradi Marjaneh M, Kirk EP, Posch MG, Ozcelik C, Berger F, Hetzer R, Otway R, Butler TL, Blue GM, Griffiths LR, Fatkin D, Martinson JJ, Winlaw DS, Feneley MP, Harvey RP.
PLoS One. 2011;6(6):e20711. Epub 2011 Jun 6.
PMID: 21673957

Lung function is associated with arterial stiffness in children.
Ayer JG, Belousova EG, Harmer JA, Toelle B, Celermajer DS, Marks GB.
PLoS One. 2011;6(10):e26303. Epub 2011 Oct 25.
PMID: 22046271

Maternal cigarette smoking is associated with reduced high-density lipoprotein cholesterol in healthy 8-year-old children.
Ayer JG, Belousova E, Harmer JA, David C, Marks GB, Celermajer DS.
Eur Heart J. 2011 Oct;32(19):2446-53. Epub 2011 Jun 21.
PMID: 21693475

Severe obesity is associated with impaired arterial smooth muscle function in young adults.
Ayer JG, Harmer JA, David C, S Steinbeck K, Seale JP, Celermajer DS.
Obesity (Silver Spring). 2011 Jan;19(1):54-60. Epub 2010 May 20.
PMID: 20489689

Snoring is not associated with adverse effects on blood pressure, arterial structure or function in 8-year-old children: the Childhood Asthma Prevention Study (CAPS).
Marshall NS, Ayer JG, Toelle BG, Harmer JA, Phillips CL, Grunstein RR, Celermajer DS, Marks GB.
J Paediatr Child Health. 2011 Aug;47(8):518-23. doi: 10.1111/j.1440-1754.2011.02014.x. Epub 2011 Apr 29.
PMID: 21535282

Somatic mutations in NKX25, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
Esposito G, Butler TL, Blue GM, Cole AD, Sholler GF, Kirk EP, Grossfeld P, Perryman BM, Harvey RP, Winlaw DS.
Am J Med Genet A. 2011 Oct;155A(10):2416-21.
PMID: 22043484

Where to now for paediatric cardiac surgery?
Winlaw DS, d'Udekem Y, Barach PR.
ANZ J Surg. 2011 Oct;81(10):659-60. No abstract available.
PMID: 22295304



Central arterial pulse wave augmentation is greater in girls than boys, independent of height.
Ayer JG, Harmer JA, Marks GB, Avolio A, Celermajer DS.
J Hypertens. 2010 Feb;28(2):306-13.
PMID: 20051902

GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL, Esposito G, Blue GM, Cole AD, Costa MW, Waddell LB, Walizada G, Sholler GF, Kirk EP, Feneley M, Harvey RP, Winlaw DS.
Genet Test Mol Biomarkers. 2010 Dec;14(6):797-802. Epub 2010 Sep 27.
PMID: 20874241

Increased tissue factor activity in monocytes from obese young adults.
Ayer JG, Song C, Steinbeck K, Celermajer DS, Ben Freedman S.
Clin Exp Pharmacol Physiol. 2010 Nov;37(11):1049-54. doi: 10.1111/j.1440-1681.2010.05430.x.
PMID: 20659134

Left atrial size increases with body mass index in children.
Ayer JG, Sholler GF, Celermajer DS.
Int J Cardiol. 2010 May 14;141(1):61-7. Epub 2009 Jan 15.
PMID: 19147240

Postprandial vascular reactivity in obese and normal weight young adults.
Ayer JG, Harmer JA, Steinbeck K, Celermajer DS.
Obesity (Silver Spring). 2010 May;18(5):945-51. Epub 2009 Oct 15.
PMID: 19834470

When hearts and minds meet: A psychological perspective on fetal cardiac diagnosis.
Kasparian NA.
Symposium entitled: Holding hearts and minds together: Experiences of infants and families affected by congenital heart disease.
Infant Mental Health Journal 2010; 32 (3 Suppl.): 104.



Dietary supplementation with n-3 polyunsaturated fatty acids in early childhood: effects on blood pressure and arterial structure and function at age 8 y.
Ayer JG, Harmer JA, Xuan W, Toelle B, Webb K, Almqvist C, Marks GB, Celermajer DS.
Am J Clin Nutr. 2009 Aug;90(2):438-46. Epub 2009 Jun 10.
PMID: 19515739

Dysfunction induced by ischemia versus edema: does edema matter?
Butler TL, Egan JR, Graf FG, Au CG, McMahon AC, North KN, Winlaw DS.
J Thorac Cardiovasc Surg. 2009 Jul;138(1):141-7, 147.e1.
PMID: 19577071

HDL-cholesterol, blood pressure, and asymmetric dimethylarginine are significantly associated with arterial wall thickness in children.
Ayer JG, Harmer JA, Nakhla S, Xuan W, Ng MK, Raitakari OT, Marks GB, Celermajer DS.
Arterioscler Thromb Vasc Biol. 2009 Jun;29(6):943-9. Epub 2009 Apr 9.
PMID: 19359663

Lipid abnormalities in children: should we be doing more?
Ayer JG, Sullivan DR, Sholler GF.
Med J Aust. 2009 Feb 2;190(3):107-8. No abstract available.
PMID: 19203302

Myocardial membrane injury in pediatric cardiac surgery: An animal model.
Egan JR, Butler TL, Cole AD, Abraham S, Murala JS, Baines D, Street N, Thompson L, Biecker O, Dittmer J, Cooper S, Au CG, North KN, Winlaw DS.
J Thorac Cardiovasc Surg. 2009 May;137(5):1154-62. Epub 2009 Feb 23.
PMID: 19379983

Transposition of the great arteries, interrupted inferior vena cava and intestinal atresia: a new association?
Kiely CJ, Holland AJ, Cole AD, Winlaw DS, Sholler GF.
Heart Lung Circ. 2009 Oct;18(5):365-7. Epub 2008 Dec 31.
PMID: 19117800



Body mass index is an independent determinant of left atrial size.
Ayer JG, Almafragy HS, Patel AA, Hellyer RL, Celermajer DS.
Heart Lung Circ. 2008 Feb;17(1):19-24. Epub 2007 Jun 7.
PMID: 17560167

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS.
Acta Neuropathol. 2008 Sep;116(3):235-46. Epub 2008 Apr 8.
PMID: 18392839

Evaluation of the extracardiac conduit modification of the Fontan operation for thrombus formation using magnetic resonance imaging.
Takawira F, Ayer JG, Onikul E, Hawker RE, Kemp A, Nicholson IA, Sholler GF.
Heart Lung Circ. 2008 Oct;17(5):407-10. Epub 2008 Apr 9.
PMID: 18403261

Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal model.
Egan JR, Butler TL, Cole AD, Aharonyan A, Baines D, Street N, Navaratnam M, Biecker O, Zazulak C, Au CG, Tan YM, North KN, Winlaw DS.
J Thorac Cardiovasc Surg. 2008 Nov;136(5):1265-73, 1273.e1-2. Epub 2008 May 23.
PMID: 19026813

Use of sildenafil and nitric oxide in the management of hypoxemia owing to pulmonary arteriovenous fistulas after total cavopulmonary connection.
Bhate S, Rossiter-Thornton M, Cooper SG, Gillis J, Cole AD, Sholler GS, Chard RB, Winlaw DS.
J Thorac Cardiovasc Surg. 2008 Feb;135(2):446-8. No abstract available.
PMID: 18242289

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