Suchergebnisse - "Szot, Justin O"

PubPharm (12)

1

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

enthalten in: The Journal of clinical investigation | 2024

von Szot, J. | Cuny, H. | Martin, E. | +36

2

Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development

enthalten in: Antioxidants & redox signaling | 2023

von Dunwoodie, S. | Bozon, K. | Szot, J. | +1

3

CHDgene : A Curated Database for Congenital Heart Disease Genes

enthalten in: Circulation. Genomic and precision medicine | 2022

von Yang, A. | Alankarage, D. | Cuny, H. | +12

4

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

enthalten in: Human mutation | 2021

von Szot, J. | Slavotinek, A. | Chong, K. | +26

5

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

enthalten in: Human mutation | 2021

von Szot, J. | Slavotinek, A. | Chong, K. | +25

6

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

enthalten in: Human molecular genetics | 2020

von Alankarage, D. | Szot, J. | Pachter, N. | +7

7

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

enthalten in: Human molecular genetics | 2020

von Chapman, G. | Moreau, J. | I P, E. | +19

8

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

enthalten in: American journal of human genetics | 2020

von Szot, J. | Campagnolo, C. | Cao, Y. | +13

9

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Alankarage, D. | Ip, E. | Szot, J. | +18

10

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

enthalten in: Circulation. Genomic and precision medicine | 2018

von Szot, J. | Cuny, H. | Blue, G. | +14

CommentIn: Circ Genom Precis Med. 2018 Mar;11(3):e002097. - PMID 29555674