NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, +30

New England Journal of Medicine

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

Justin O. Szot, Hartmut Cuny, Gillian M. Blue, +14

Circulation Genomic and Precision Medicine

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

Dimuthu Alankarage, Eddie Ip, Justin O. Szot, +18

Genetics in Medicine

EngineeringVariant InterpretationMedicineGeneticsActionable Variants +9

Notch4 reveals a novel mechanism regulating Notch signal transduction

Alexander C. James, Justin O. Szot, Kala Iyer, +4

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Signal TransductionSignaling PathwayMolecular PathwayCellular Regulatory MechanismNotch Signal Transduction +3

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, +24

Human Molecular Genetics

Developmental AnomalyTranscriptional RegulationDevelopmental BiologyPbx1 Sequence VariantsHomeoprotein Pbx1 +13

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

Gavin Chapman, Julie Moreau, I P Eddie, +19

Human Molecular Genetics

GeneticsCardiac Progenitor CellsMolecular GeneticsDisease Gene IdentificationGenomics +14

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

Justin O. Szot, Carla Campagnolo, Ye Cao, +13

The American Journal of Human Genetics

Bi-allelic MutationsDevelopmental BiologySomatic VariantMendelian DisorderGenetic Disorder +7

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Dimuthu Alankarage, Justin O. Szot, Nick Pachter, +7

Human Molecular Genetics

Pbx1 ProteinGeneticsGenetic EpidemiologyPathologyNovel Pbx1 +18

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Justin O. Szot, Anne Slavotinek, Karen Chong, +21

Human Mutation

GeneticsNicotinamide Adenine DinucleotidePhenotypic SpectrumMolecular GeneticsDisease Gene Identification +18

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Justin O. Szot, Hartmut Cuny, Ella MMA Martin, +36

Journal of Clinical Investigation

Metabolic DisorderGeneticsNicotinamide Adenine DinucleotideMetabolic SignatureDisease Gene Identification +14