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Publications

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

Broadway-Stringer S. et al, (2023), Cells, 12

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

Alankarage D. et al, (2022), Differentiation

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

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

Maternal iron deficiency perturbs embryonic cardiovascular development in mice

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

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), Nat Commun, 12

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

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

Martin EMMA. et al, (2021), Hum Mol Genet, 29, 3662 - 3678

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

Kalisch-Smith JI. et al, (2021), Front Genet, 12

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Chapman G. et al, (2020), Hum Mol Genet, 29, 566 - 579

Environmental Risk Factors for Congenital Heart Disease.

Kalisch-Smith JI. et al, (2020), Cold Spring Harb Perspect Biol, 12

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

Ved N. et al, (2019), Lab Anim, 53, 630 - 633

Gene-environment interaction impacts on heart development and embryo survival.

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

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

Szot JO. et al, (2018), Circ Genom Precis Med, 11

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi H. et al, (2017), N Engl J Med, 377, 544 - 552

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, 143, 2561 - 2572

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

Genetic and environmental interaction in malformation of the vertebral column

Dunwoodie SL. and Sparrow DB., (2015), Molecular Genetics of Pediatric Orthopaedic Disorders, 131 - 151

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