Justin O. Szot

Prince of Wales Hospital — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index773citations14works10.52yr avg
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Research Topics

Congenital heart defects research(5), Genomics and Rare Diseases(4), PARP inhibition in cancer therapy(4), Congenital Heart Disease Studies(3), CRISPR and Genetic Engineering(3)

Publications14 total

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Human Molecular Genetics·2026
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Journal of Clinical Investigation·2024· 21 citedOpen Access
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development
Antioxidants and Redox Signaling·2023· 16 cited
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Human Mutation·2021· 30 citedOpen Access
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
The American Journal of Human Genetics·2019· 47 citedOpen Access
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Human Molecular Genetics·2019· 49 citedOpen Access
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease
Human Molecular Genetics·2019· 32 citedOpen Access
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Genetics in Medicine·2018· 84 citedOpen Access
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
Circulation Genomic and Precision Medicine·2018· 99 citedOpen Access
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
Human Molecular Genetics·2017· 54 citedOpen Access
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
New England Journal of Medicine·2017· 235 citedOpen Access
The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease
International Journal of Cardiology·2016· 11 cited
Notch4 reveals a novel mechanism regulating Notch signal transduction
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research·2014· 75 cited
Cellular morphologies in a de-alloying residue
Philosophical Magazine Letters·1987· 20 cited

Frequent Co-authors

Sally L. Dunwoodie(12), Gavin Chapman(11), David S. Winlaw(7), Eleni Giannoulatou(5), Hartmut Cuny(5), David T. Humphreys(4), Gillian M. Blue(4), Dimuthu Alankarage(4), Annabelle Enriquez(3), Ella MMA Martin(3), Eddie Ip(3), Joshua W. K. Ho(3), Duncan B. Sparrow(3), Gary F. Sholler(3), Nicholas Pachter(3), Anne Slavotinek(3), Kavitha R. Iyer(3), Hongjun Shi(2), Julie Moreau(2), Paul Leo(2)