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Article

Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.

Physiological genomics - 1 Dec 2023

Tambi Richa, Zehra Binte, Nandkishore Sharon, Sharafat Shermin, Kader Faiza, Nassir Nasna, Mohamed Nesrin, Ahmed Awab, Abdel Hameid Reem, Alasrawi Samah, Brueckner Martina, Kuebler Wolfgang M, Chung Wendy K, Alsheikh-Ali Alawi, Di Donato Roberto M, Uddin Mohammed, Berdiev Bakhrom K

Abstract excerpt

Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and Indels] impacting 8,308 genes in 3,166 CHD cases for a comprehensive meta-analysis. Using American College of Medical Genetics (ACMG) guidelines, we excluded the 0.1% of benign/likely benign variants and the...

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Share to Endothelial Cells
Share to NOTCH1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Infant, Newborn

Share to MAP Kinase Kinase Kinases

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Share to Myocytes, Cardiac

Source

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Identifiers

PMID: 37811720
DOI: 10.1152/physiolgenomics.00070.2023
PMCID: PMC11550899

Genes

MYH6
NOTCH1
CEP95
GPATCH1
MAP3K19
NYNRIN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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