Publications by authors named "Gillian Blue"

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Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.
Dimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, Alena Sipka, Gillian M Blue

HGG Adv· October 2025

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Correction: Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.
Bridget R O'Malley, Janine Smith, Gary F Sholler, Julian Ayer, Gillian M Blue

Pediatr Cardiol· October 2025

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Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent, and Clinician Perspective.
Bridget R O'Malley, Janine Smith, Gary F Sholler, Julian Ayer, Gillian M Blue

Pediatr Cardiol· September 2025

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The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management.
Bridget R O'Malley, Gary F Sholler, Janine Smith, Gillian M Blue

J Paediatr Child Health· August 2025

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Outcomes and experiences of genetic testing in children with congenital heart disease.
Ansley M Morrish, Bridget R O'Malley, Desiree C K Hilton, Annabel E Webb, Bruce Bennetts, Gillian M Blue

J Med Genet· April 2025

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Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease.
Jamie-Lee M Thompson, Ingrid S Tarr, Emma M Rath, Michael Troup, Eddie K K Ip, Gillian M Blue

JACC Adv· April 2025

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A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Gillian M Blue

Genome Med· October 2024

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The CHD severity classification system: development of a tool to assist with disease stratification for CHD research.
Bridget R O'Malley, Nayem Raja, Gillian M Blue, David S Winlaw, Gary F Sholler

Cardiol Young· October 2024

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The Kids Heart BioBank: supporting 20 years of patient care and research into CHD.
Desiree C K Hilton, Bridget R O'Malley, Andrew D Cole, Richard P Harvey, Sally L Dunwoodie, Gillian M Blue

Cardiol Young· August 2024

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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Rachel Austin, Jaye S Brown, Sarah Casauria, Evanthia O Madelli, Tessa Mattiske, Gillian M Blue

Genet Med Open· March 2024

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Using novel data linkage of congenital heart disease biobank data with administrative health data to identify cardiovascular outcomes to inform genomic analysis.
Samantha J Lain, Gillian M Blue, Bridget R O'Malley, David S Winlaw, Gary Sholler

Int J Popul Data Sci· February 2024

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Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease.
Gillian M Blue, Seema Mital

Circ Genom Precis Med· June 2023

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Biological and structural phenotypes associated with neurodevelopmental outcomes in congenital heart disease.
Charlotte E Verrall, Shrujna Patel, Leksi Travitz, Jason Tchieu, Russel C Dale, Gillian M Blue

Transl Pediatr· April 2023

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ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.
Mikhail Gudkov, Loïc Thibaut, Matloob Khushi, Gillian M Blue, David S Winlaw

BMC Bioinformatics· February 2023

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Insights into the genetic architecture underlying complex, critical congenital heart disease.
Gillian M Blue, Eddie K K Ip, Michael Troup, Russell C Dale, Gary F Sholler

Am Heart J· December 2022

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A new era of genetic testing in congenital heart disease: A review.
Ansley M Morrish, Janine Smith, Annabelle Enriquez, Gary F Sholler, Jonathan Mervis, Gillian M Blue

Trends Cardiovasc Med· July 2022

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CHDgene: A Curated Database for Congenital Heart Disease Genes.
Andrian Yang, Dimuthu Alankarage, Hartmut Cuny, Eddie K K Ip, Moran Almog, Gillian M Blue

Circ Genom Precis Med· June 2022

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Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Gillian M Blue, Mauk Mekel, Debjani Das, Michael Troup, Emma Rath

Am Heart J· February 2022

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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik van Weerd, Gillian M Blue

Circ Res· January 2022

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'Big issues' in neurodevelopment for children and adults with congenital heart disease.
Charlotte E Verrall, Gillian M Blue, Alison Loughran-Fowlds, Nadine Kasparian, Jozef Gecz

Open Heart· February 2021

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Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.
Gillian M Blue, Janine Smith, Gary F Sholler, Christopher Semsarian, David S Winlaw

Heart Lung Circ· November 2020

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Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Gavin Chapman, Julie L M Moreau, Eddie I P, Justin O Szot, Kavitha R Iyer, Gillian M Blue

Hum Mol Genet· March 2020

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"Why and how did this happen?": development and evaluation of an information resource for parents of children with CHD.
Alexis V Hunt, Desiree C K Hilton, Charlotte E Verrall, Kristine K Barlow-Stewart, Jane Fleming, Gillian M Blue

Cardiol Young· March 2020

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Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statement.
Dominica Zentner, David S Celermajer, Thomas Gentles, Yves d'Udekem, Julian Ayer, Gillian M Blue

Heart Lung Circ· January 2020

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Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Dimuthu Alankarage, Eddie Ip, Justin O Szot, Jacob Munro, Gillian M Blue

Genet Med· May 2019

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