Dr Gillian Blue

Clinical Senior Lecturer
The Childrens Hospital at Westmead Clinical School

Telephone 9845 2345

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Biographical details

Dr Gillian Blue is a genetic counsellor and translational researcher with skills and experience in clinical, laboratory as well as psychosocial research. Her primary interest is in the genetics of congenital heart disease, more specifically in the application of next generation sequencing technology towards understanding disease causation in the clinical setting, from a laboratory as well as psychosocial perspective. With a bachground in genetic counselling, her research also focuses on improving ways to communicate genetic information on the causes of congenital heart disease to patients and their families. Having recently completed her PhD on the ‘Genetics of congenital heart disease: new genes, mechanisms and attitudes’ she plans on continuing her interest in translational research in the field. She also manages the day-to-day running of the Kids Heart Research DNA Bank in Sydney, a resource dedicated to genetic research into congenital heart disease.

Associations

Member of the Human Genetics Society of Australasia (HGSA)

Member of the Australasian Society of Genetic Counsellors (ASGC)

Member of the Australasian Biospeciment Network Association (ABNA)

Awards and honours

2016 Heart Kids Australia Grant-in-Aid ($50,000)

Blue GM, Winlaw DS, Badawi N, Walker K.

Targeted exome panel identifying causes of congenital heart disease and neurodevelopmental disability in children undergoing neonatal heart surgery.

2016 Cerebral Palsy Alliance STEPTEMBER Project Grant ($125,000)

Winlaw DS, Blue GM, Loughran-Fowlds A, Walker K.

Comprehensive genetic analysis in neonates with congenital heart disease and association with neurodevelopmental outcomes including autism, intellectual disability and cerebral palsy. 

2015   Certificate of Commendation for Student Research Publication

The Dean of Sydney Medical School, University of Sydney.

2015   Acknowledgment for significant achievement by the Dean of Sydney Medical School

Presented at the Sydney Medical School Annual Faculty Dinner, University of Sydney.      

2014   Best Publication by a Higher Degree Research Student

Discipline of Paediatrics and Child Health, University of Sydney

2014   Young Investigator Award for Best Oral presentation

International Clinical Cardiovascular Genetics Conference, Brisbane Australia. 

2011   Australian Postgraduate Award (APA)

Postgraduate Scholarship

2003 & 2004 National Research Foundation Prestigious Scholarship (South Africa)

Postgraduate Scholarship                  

Selected grants

2018

  • The role of genetic burden in congenital heart disease and translation into patient care; Blue G; National Heart Foundation of Australia/Postdoctoral Fellowships (Biomedical, Clinical, Public Health, Health Services).
  • Precision medicine in CHD: genetic variants guiding post-operative clinical management; Winlaw D, Blue G, Giannoulatou E, Egan J, Mital S; HeartKids Australia/Grants in Aid.

Selected publications

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Journals

  • Sabbaghian, N., Digilio, M., Blue, G., Revil, T., Winlaw, D., Foulkes, W. (2018). Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. Congenital Heart Disease, 13(3), 401-406. [More Information]
  • Blue, G., Ip, E., Walker, K., Kirk, E., Loughran-Fowlds, A., Sholler, G., Dunwoodie, S., Harvey, R., Giannoulatou, E., Badawi, N., Winlaw, D. (2018). Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201, 33-39. [More Information]
  • Blue, G., Kirk, E., Giannoulatou, E., Sholler, G., Dunwoodie, S., Harvey, R., Winlaw, D. (2017). Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide. Journal of the American College of Cardiology, 69(7), 859-870. [More Information]
  • Blue, G., Humphreys, D., Szot, J., Major, J., Chapman, G., Bosman, A., Kirk, E., Sholler, G., Harvey, R., Dunwoodie, S., Winlaw, D. (2017). The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease. International Journal of Cardiology, 230, 155-163. [More Information]
  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Blue, G., Aghdami, N., Winlaw, D., Harvey, R., Bosman, A., Baharvand, H. (2016). Large-scale production of cardiomyocytes from human pluripotent stem cells using a highly reproducible small molecule-based differentiation protocol. Journal of Visualized Experiments, 2016 (113), 1-10. [More Information]
  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Larijani, M., Kiani, S., Hashemizadeh, S., Zarchi, A., Bosman, A., Blue, G., Pahlavan, S., Winlaw, D., et al (2015). A universal and robust integrated platform for the scalable production of human cardiomyocytes from pluripotent stem cells. Stem Cells Translational Medicine, 4(12), 1-13. [More Information]
  • Bosman, A., Edel, M., Blue, G., Dilley, R., Harvey, R., Winlaw, D. (2015). Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease. Journal of Clinical Medicine, 4(4), 768-781. [More Information]
  • Blue, G., Kasparian, N., Sholler, G., Kirk, E., Winlaw, D. (2015). Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning. International Journal of Cardiology, 178, 124-130. [More Information]
  • Blue, G., Kirk, E., Sholler, G., Winlaw, D. (2014). Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD. Heart, Lung and Circulation, 23(S2), e1.
  • Blue, G., Kirk, E., Giannoulatou, E., Dunwoodie, S., Ho, J., Hilton, D., White, S., Sholler, G., Harvey, R., Winlaw, D. (2014). Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Journal of the American College of Cardiology, 64(23), 2498-2506. [More Information]
  • Cordell, H., Topf, A., Mamasoula, C., Postma, A., Bentham, J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados-Riveron, J., Winlaw, D., et al (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7), 1473-1481. [More Information]
  • Cordell, H., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K., Dos Remedios, C., Winlaw, D., et al (2013). Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics, 45(7), 822-824. [More Information]
  • Blue, G., Kirk, E., Sholler, G., Harvey, R., Winlaw, D. (2012). Congenital heart disease: current knowledge about causes and inheritance. Medical Journal of Australia, 197(3), 155-159. [More Information]
  • Soemedi, R., Wilson, I., Bentham, J., Darlay, R., Topf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., Winlaw, D., et al (2012). Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. American Journal of Human Genetics, 91(3), 489-501. [More Information]
  • Marjaneh, M., Kirk, E., Posch, M., Ozcelik, C., Berger, F., Hetzer, R., Otway, R., Butler, T., Blue, G., Griffiths, L., Winlaw, D., et al (2011). Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PloS One, 6(6), e20711-1-e20711-7. [More Information]
  • Esposito, G., Butler, T., Blue, G., Cole, A., Sholler, G., Kirk, E., Grossfeld, P., Perryman, B., Harvey, R., Winlaw, D. (2011). Somatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart. American Journal of Medical Genetics, Part A, 155(10), 2416-2421. [More Information]
  • Butler, T., Esposito, G., Blue, G., Cole, A., Costa, M., Waddell, L., Walizada, G., Sholler, G., Kirk, E., Feneley, M., Winlaw, D., et al (2010). GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation. Genetic Testing and Molecular Biomarkers, 14(6), 1-6. [More Information]

2018

  • Sabbaghian, N., Digilio, M., Blue, G., Revil, T., Winlaw, D., Foulkes, W. (2018). Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. Congenital Heart Disease, 13(3), 401-406. [More Information]
  • Blue, G., Ip, E., Walker, K., Kirk, E., Loughran-Fowlds, A., Sholler, G., Dunwoodie, S., Harvey, R., Giannoulatou, E., Badawi, N., Winlaw, D. (2018). Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201, 33-39. [More Information]

2017

  • Blue, G., Kirk, E., Giannoulatou, E., Sholler, G., Dunwoodie, S., Harvey, R., Winlaw, D. (2017). Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide. Journal of the American College of Cardiology, 69(7), 859-870. [More Information]
  • Blue, G., Humphreys, D., Szot, J., Major, J., Chapman, G., Bosman, A., Kirk, E., Sholler, G., Harvey, R., Dunwoodie, S., Winlaw, D. (2017). The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease. International Journal of Cardiology, 230, 155-163. [More Information]

2016

  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Blue, G., Aghdami, N., Winlaw, D., Harvey, R., Bosman, A., Baharvand, H. (2016). Large-scale production of cardiomyocytes from human pluripotent stem cells using a highly reproducible small molecule-based differentiation protocol. Journal of Visualized Experiments, 2016 (113), 1-10. [More Information]

2015

  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Larijani, M., Kiani, S., Hashemizadeh, S., Zarchi, A., Bosman, A., Blue, G., Pahlavan, S., Winlaw, D., et al (2015). A universal and robust integrated platform for the scalable production of human cardiomyocytes from pluripotent stem cells. Stem Cells Translational Medicine, 4(12), 1-13. [More Information]
  • Bosman, A., Edel, M., Blue, G., Dilley, R., Harvey, R., Winlaw, D. (2015). Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease. Journal of Clinical Medicine, 4(4), 768-781. [More Information]
  • Blue, G., Kasparian, N., Sholler, G., Kirk, E., Winlaw, D. (2015). Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning. International Journal of Cardiology, 178, 124-130. [More Information]

2014

  • Blue, G., Kirk, E., Sholler, G., Winlaw, D. (2014). Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD. Heart, Lung and Circulation, 23(S2), e1.
  • Blue, G., Kirk, E., Giannoulatou, E., Dunwoodie, S., Ho, J., Hilton, D., White, S., Sholler, G., Harvey, R., Winlaw, D. (2014). Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Journal of the American College of Cardiology, 64(23), 2498-2506. [More Information]

2013

  • Cordell, H., Topf, A., Mamasoula, C., Postma, A., Bentham, J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados-Riveron, J., Winlaw, D., et al (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7), 1473-1481. [More Information]
  • Cordell, H., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K., Dos Remedios, C., Winlaw, D., et al (2013). Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics, 45(7), 822-824. [More Information]

2012

  • Blue, G., Kirk, E., Sholler, G., Harvey, R., Winlaw, D. (2012). Congenital heart disease: current knowledge about causes and inheritance. Medical Journal of Australia, 197(3), 155-159. [More Information]
  • Soemedi, R., Wilson, I., Bentham, J., Darlay, R., Topf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., Winlaw, D., et al (2012). Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. American Journal of Human Genetics, 91(3), 489-501. [More Information]

2011

  • Marjaneh, M., Kirk, E., Posch, M., Ozcelik, C., Berger, F., Hetzer, R., Otway, R., Butler, T., Blue, G., Griffiths, L., Winlaw, D., et al (2011). Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PloS One, 6(6), e20711-1-e20711-7. [More Information]
  • Esposito, G., Butler, T., Blue, G., Cole, A., Sholler, G., Kirk, E., Grossfeld, P., Perryman, B., Harvey, R., Winlaw, D. (2011). Somatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart. American Journal of Medical Genetics, Part A, 155(10), 2416-2421. [More Information]

2010

  • Butler, T., Esposito, G., Blue, G., Cole, A., Costa, M., Waddell, L., Walizada, G., Sholler, G., Kirk, E., Feneley, M., Winlaw, D., et al (2010). GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation. Genetic Testing and Molecular Biomarkers, 14(6), 1-6. [More Information]

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