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1.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet
; 106(1): 129-136, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31883644
2.
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Hum Mol Genet
; 29(7): 1068-1082, 2020 05 08.
Article
in English
| MEDLINE | ID: mdl-31625560
3.
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Hum Mol Genet
; 29(4): 566-579, 2020 03 13.
Article
in English
| MEDLINE | ID: mdl-31813956
4.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33942433
5.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
N Engl J Med
; 377(6): 544-552, 2017 08 10.
Article
in English
| MEDLINE | ID: mdl-28792876
6.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet
; 26(24): 4849-4860, 2017 12 15.
Article
in English
| MEDLINE | ID: mdl-29036646
7.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genet Med
; 21(5): 1111-1120, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30293987
8.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest
; 134(4)2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-38357931
9.
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Antioxid Redox Signal
; 39(16-18): 1108-1132, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37300479
10.
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Circ Genom Precis Med
; 11(3): e001978, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29555671
11.
CHDgene: A Curated Database for Congenital Heart Disease Genes.
Circ Genom Precis Med
; 15(3): e003539, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35522174
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