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Publications

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

Broadway-Stringer S. et al, (2023), Cells

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

Alankarage D. et al, (2022), Differentiation

Analysis of Placental Arteriovenous Formation Reveals New Insights Into Embryos With Congenital Heart Defects

KALISCH-SMITH J. et al, (2022), Frontiers in Genetics

The onset of circulation triggers a metabolic switch required for endothelial to hematopoietic transition.

Azzoni E. et al, (2021), Cell Rep, 37

Better communication between experts is needed to solve the environmental origins of birth defects

Sparrow DB., (2021), BioEssays, 2100241 - 2100241

Maternal iron deficiency perturbs embryonic cardiovascular development in mice.

Kalisch-Smith JI. et al, (2021), Nature communications, 12

Maternal iron deficiency perturbs embryonic cardiovascular development in mice

SPARROW D. et al, (2021), Nature Communications

Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant

JIANG H. et al, (2021), Basic Research in Cardiology

Maternal iron deficiency impacts the placental arterial network

Kalisch-Smith J. et al, (2021)

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

Martin E. et al, (2020), Human Molecular Genetics

Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants

Chapman G. et al, (2019), Human Molecular Genetics

Environmental Risk Factors for Congenital Heart Disease

Kalisch-Smith JI. et al, (2019), Cold Spring Harbor Perspectives in Biology, a037234 - a037234

Tamoxifen administration in pregnant mice can be deleterious to both mother and embryo

VED N. et al, (2019), Laboratory Animals

Gene-environment interaction impacts on heart development and embryo survival

Moreau JLM. et al, (2019), Development, 146, dev172957 - dev172957

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

Szot JO. et al, (2018), Circulation: Genomic and Precision Medicine

NAD Deficiency, Congenital Malformations and Niacin Supplementation

Shi H. et al, (2017), New England Journal of Medicine

Gestational stress induces the unfolded protein response, resulting in heart defects

Moreau JLM. et al, (2017), MECHANISMS OF DEVELOPMENT, 145, S67 - S68

Gestational Stress Induces the Unfolded Protein Response Resulting in Heart Defects

Shi H. et al, (2016), Development

Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling.

Wilkinson LJ. et al, (2015), Kidney Int, 87, 975 - 983

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM. et al, (2015), Hum Mol Genet, 24, 1234 - 1242

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