Eddie K. Ip

St Vincent's Healthcare Clinical Campus
Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 15 publications

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.

Journal: Briefings in bioinformatics

Published: January 23, 2025

Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease.

Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease.

Journal: JACC. Advances

Published: September 04, 2024

Insights into the genetic architecture underlying complex, critical congenital heart disease.

Insights into the genetic architecture underlying complex, critical congenital heart disease.

Journal: American heart journal

Published: June 29, 2022

CHDgene: A Curated Database for Congenital Heart Disease Genes.

CHDgene: A Curated Database for Congenital Heart Disease Genes.

Journal: Circulation. Genomic and precision medicine

Published: May 06, 2022

Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.

Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.

Journal: American heart journal

Published: May 20, 2021

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.

Journal: Frontiers in genetics

Published: April 08, 2021

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Journal: Human molecular genetics

Published: June 29, 2020

dv-trio: a family-based variant calling pipeline using DeepVariant.

dv-trio: a family-based variant calling pipeline using DeepVariant.

Journal: Bioinformatics (Oxford, England)

Published: July 18, 2019

Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants.

Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants.

Journal: Bioinformatics (Oxford, England)

Published: December 24, 2018

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.

Journal: Genomics, proteomics & bioinformatics

Published: November 20, 2018

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2018

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Journal: American heart journal

Published: November 16, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026