Publications by authors named "Sally L Dunwoodie"

93Publications

Diseases of development: leveraging developmental biology to understand human disease.

Development 2020 11 12;147(21). Epub 2020 Nov 12.

University of Texas, Austin, TX 78712, USA

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November 2020

CITED2 limits pathogenic inflammatory gene programs in myeloid cells.

FASEB J 2020 Sep 22;34(9):12100-12113. Epub 2020 Jul 22.

Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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September 2020

NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.

Proc Natl Acad Sci U S A 2020 02 3;117(7):3738-3747. Epub 2020 Feb 3.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW 2010, Australia;

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February 2020

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

Am J Hum Genet 2020 01 26;106(1):129-136. Epub 2019 Dec 26.

Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia. Electronic address:

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January 2020

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

Genomics Proteomics Bioinformatics 2019 10 22;17(5):540-545. Epub 2019 Nov 22.

Victor Chang Cardiac Research Institute, Sydney 2010, Australia; St Vincent's Clinical School, University of New South Wales, Sydney 2052, Australia. Electronic address:

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October 2019

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

Bioinformatics 2019 11;35(21):4405-4407

Victor Chang Cardiac Research Institute, Sydney, Australia.

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November 2019

The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors.

J Biol Chem 2019 05 9;294(21):8617-8629. Epub 2019 Apr 9.

From the University of Ottawa Brain and Mind Research Institute, Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada,

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May 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 03;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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March 2019

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

Development 2019 02 20;146(4). Epub 2019 Feb 20.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales 2010, Australia

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February 2019

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

Am Heart J 2018 07 5;201:33-39. Epub 2018 Apr 5.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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July 2018