Gillian M. Blue

The University of Sydney — Australia

Medicine · Health Sciences

19h-index2.2kcitations65works1.72yr avg
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Research Topics

Congenital Heart Disease Studies(43), Congenital heart defects research(40), Genomics and Rare Diseases(9), Tracheal and airway disorders(8), Cardiac Valve Diseases and Treatments(6)

Publications63 total

Correction: Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective
Pediatric Cardiology·2025Open Access
Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective
Pediatric Cardiology·2025Open Access
The Evolving Landscape of <scp>CHD</scp> Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health·2025Open Access
Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent and Clinician Perspective
2025Open Access
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease
Human Genetics and Genomics Advances·2025Open Access
Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development
2025
Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease
JACC Advances·2025Open Access
Outcomes and experiences of genetic testing in children with congenital heart disease
Journal of Medical Genetics·2025· 3 cited
Benchmarking of variant pathogenicity prediction methods using a population genetics approach
Bioinformatics Advances·2024· 1 citedOpen Access
Atlantool: a command line tool to retrieve DNA and RNA sequencing reads from BAM files by the read identifier
Bioinformatics Advances·2024Open Access
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Genome Medicine·2024· 5 citedOpen Access
The CHD severity classification system: development of a tool to assist with disease stratification for CHD research
Cardiology in the Young·2024· 2 citedOpen Access
The Kids Heart BioBank: supporting 20 years of patient care and research into CHD
Cardiology in the Young·2024· 3 citedOpen Access
Prenatal and Maternal Contributors to Disease Severity in Congenital Heart Disease
Heart Lung and Circulation·2024
The CHD Severity Classification System: Development of a Tool to Assist With Disease Stratification for CHD Research
Heart Lung and Circulation·2024
Genetic Health in Adolescents with CHD: A Population-Specific Pilot Study
Heart Lung and Circulation·2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
Genetics in Medicine Open·2024· 7 citedOpen Access
A validated heart-specific model for splice-disrupting variants in childhood heart disease
2023Open Access
Using novel data linkage of biobank data with administrative health data to inform genomic analysis for future precision medicine treatment of congenital heart disease
International Journal for Population Data Science·2023· 2 citedOpen Access
The Kids Heart BioBank—Supporting Patient Care and Research Into Congenital Heart Disease
Heart Lung and Circulation·2023Open Access
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Frequent Co-authors

David S. Winlaw(48), Gary F. Sholler(27), Sally L. Dunwoodie(22), Richard P. Harvey(21), Eleni Giannoulatou(16), Edwin P. Kirk(14), Jeroen Breckpot(8), Eddie Ip(7), Heather J. Cordell(6), Bernard Keavney(6), Seema Mital(6), Alex V. Postma(6), Gavin Chapman(6), Bridget R. O’Malley(6), Jamie Bentham(5), Ana Töpf(5), Catherine Cosgrove(5), Kerry Setchfield(5), Chris Thornborough(5), Javier T Granados-Riveron(5)