Gavin A. Chapman

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 31 publications

Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases.

Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases.

Journal: Differentiation; research in biological diversity
Published: October 20, 2025

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Journal: HGG advances
Published: April 28, 2025

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

Journal: European journal of human genetics : EJHG
Published: January 20, 2025

Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressure.

Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressure.

Journal: Nature communications
Published: March 06, 2024

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Journal: The Journal of clinical investigation
Published: September 06, 2023

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Journal: Differentiation; research in biological diversity
Published: September 15, 2022

An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters.

An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters.

Journal: STAR protocols
Published: May 10, 2022

Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography.

Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography.

Journal: STAR protocols
Published: January 10, 2022

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Journal: Human mutation
Published: November 30, 2020

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

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Journal: American journal of human genetics
Published: November 05, 2019

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

Journal: American journal of medical genetics. Part A
Published: October 14, 2019
Showing 1-12 of 31

Last Updated: 09/26/2026