Justin O. Szot

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas et al. · New England Journal of Medicine · 2017 · 235 citations · Full text

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

Justin O. Szot, Hartmut Cuny, Gillian M. Blue et al. · Circulation Genomic and Precision Medicine · 2018 · 99 citations · Full text

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Dimuthu Alankarage, Eddie Ip, Justin O. Szot et al. · Genetics in Medicine · 2018 · 84 citations · Full text

Engineering, Variant Interpretation, Medicine +11

Notch4 reveals a novel mechanism regulating Notch signal transduction

Alexander C. James, Justin O. Szot, Kala Iyer et al. · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 2014 · 75 citations

Signal Transduction, Signaling Pathway, Molecular Pathway +5

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Anne Slavotinek, Maurizio Risolino, Marta Losa et al. · Human Molecular Genetics · 2017 · 54 citations · Full text

Developmental Anomaly, Transcriptional Regulation, Developmental Biology +15