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

Journal article

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

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

Journal article

Alankarage D. et al, (2022), Differentiation

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

Journal article

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

Maternal iron deficiency perturbs embryonic cardiovascular development in mice.

Journal article

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

Maternal iron deficiency perturbs embryonic cardiovascular development in mice

Journal article

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

Maternal iron deficiency impacts the placental arterial network

Journal article

Kalisch-Smith J. et al, (2021)

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

Journal article

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

Environmental Risk Factors for Congenital Heart Disease

Journal article

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

Journal article

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

Gene-environment interaction impacts on heart development and embryo survival

Journal article

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

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

Journal article

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

NAD Deficiency, Congenital Malformations and Niacin Supplementation

Journal article

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

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

Conference paper

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

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Journal article

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

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