Justin O. Szot
Randwick, NSW 2031, Australia
Last Updated: 09/26/2026
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Found 14 publications
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Journal: The Journal of clinical investigation
Published: September 06, 2023
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Journal: Antioxidants & redox signaling
Published: June 10, 2023
CHDgene: A Curated Database for Congenital Heart Disease Genes.
Journal: Circulation. Genomic and precision medicine
Published: May 06, 2022
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Journal: Human mutation
Published: November 30, 2020
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Journal: American journal of human genetics
Published: November 05, 2019
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Journal: Human molecular genetics
Published: July 26, 2019
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Journal: Human molecular genetics
Published: June 27, 2019
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2018
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Journal: Circulation. Genomic and precision medicine
Published: October 05, 2017
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Journal: The New England journal of medicine
Published: August 10, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Journal: Human molecular genetics
Published: June 13, 2017
Last Updated: 09/26/2026