Congenital heart disease: current knowledge about causes and inheritance. GM Blue, EP Kirk, GF Sholler, RP Harvey, DS Winlaw Medical Journal of Australia 197 (3), 2012 | 345 | 2012 |
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ... The American Journal of Human Genetics 91 (3), 489-501, 2012 | 335 | 2012 |
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 HJ Cordell, J Bentham, A Topf, D Zelenika, S Heath, C Mamasoula, ... Nature genetics 45 (7), 822-824, 2013 | 158 | 2013 |
Advances in the genetics of congenital heart disease: a clinician’s guide GM Blue, EP Kirk, E Giannoulatou, GF Sholler, SL Dunwoodie, RP Harvey, ... Journal of the American College of Cardiology 69 (7), 859-870, 2017 | 138 | 2017 |
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls R Soemedi, A Topf, IJ Wilson, R Darlay, T Rahman, E Glen, D Hall, ... Human molecular genetics 21 (7), 1513-1520, 2012 | 132 | 2012 |
A universal and robust integrated platform for the scalable production of human cardiomyocytes from pluripotent stem cells H Fonoudi, H Ansari, S Abbasalizadeh, MR Larijani, S Kiani, ... Stem cells translational medicine 4 (12), 1482-1494, 2015 | 121 | 2015 |
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease GM Blue, EP Kirk, E Giannoulatou, SL Dunwoodie, JWK Ho, DCK Hilton, ... Journal of the American College of Cardiology 64 (23), 2498-2506, 2014 | 108 | 2014 |
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot HJ Cordell, A Töpf, C Mamasoula, AV Postma, J Bentham, D Zelenika, ... Human molecular genetics 22 (7), 1473-1481, 2013 | 98 | 2013 |
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot HJ Cordell, A Töpf, C Mamasoula, AV Postma, J Bentham, D Zelenika, ... Human molecular genetics 22 (7), 1473-1481, 2013 | 98 | 2013 |
‘Big issues’ in neurodevelopment for children and adults with congenital heart disease CE Verrall, GM Blue, A Loughran-Fowlds, N Kasparian, J Gecz, K Walker, ... Open Heart 6 (2), e000998, 2019 | 78 | 2019 |
A screening approach to identify clinically actionable variants causing congenital heart disease in exome data JO Szot, H Cuny, GM Blue, DT Humphreys, E Ip, K Harrison, GF Sholler, ... Circulation: Genomic and Precision Medicine 11 (3), e001978, 2018 | 76 | 2018 |
GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation TL Butler, G Esposito, GM Blue, AD Cole, MW Costa, LB Waddell, ... Genetic testing and molecular biomarkers 14 (6), 797-802, 2010 | 72 | 2010 |
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease D Alankarage, E Ip, JO Szot, J Munro, GM Blue, K Harrison, H Cuny, ... Genetics in Medicine 21 (5), 1111-1120, 2019 | 71 | 2019 |
Management of people with a Fontan circulation: a Cardiac Society of Australia and New Zealand position statement D Zentner, DS Celermajer, T Gentles, Y d’Udekem, J Ayer, GM Blue, ... Heart, Lung and Circulation 29 (1), 5-39, 2020 | 55 | 2020 |
Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart G Esposito, TL Butler, GM Blue, AD Cole, GF Sholler, EP Kirk, P Grossfeld, ... American Journal of Medical Genetics Part A 155 (10), 2416-2421, 2011 | 47 | 2011 |
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13 125 controls C Mamasoula, RR Prentice, T Pierscionek, F Pangilinan, JL Mills, ... Circulation: Cardiovascular Genetics 6 (4), 347-353, 2013 | 45 | 2013 |
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants G Chapman, JLM Moreau, E Ip, JO Szot, KR Iyer, H Shi, MX Yam, ... Human Molecular Genetics 29 (4), 566-579, 2020 | 40 | 2020 |
Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning GM Blue, NA Kasparian, GF Sholler, EP Kirk, DS Winlaw International Journal of Cardiology 178, 124-130, 2015 | 40 | 2015 |
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease GM Blue, E Ip, K Walker, EP Kirk, A Loughran-Fowlds, GF Sholler, ... American heart journal 201, 33-39, 2018 | 24 | 2018 |
Large-scale production of cardiomyocytes from human pluripotent stem cells using a highly reproducible small molecule-based differentiation protocol H Fonoudi, H Ansari, S Abbasalizadeh, GM Blue, N Aghdami, DS Winlaw, ... JoVE (Journal of Visualized Experiments), e54276, 2016 | 23 | 2016 |