Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.

Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Dec 2017

Xu Yuejuan, Li Tingting, Pu Tian, Cao Ruixue, Long Fei, Chen Sun, Sun Kun, Xu Rang

Abstract excerpt

Congenital heart disease (CHD) is one of the most common birth defects. More than 200 susceptibility loci have been identified for CHDs, yet a large part of the genetic risk factors remain unexplained. Monozygotic (MZ) twins are thought to be completely genetically identical; however, discordant phenotypes have been found in MZ twins. Recent studies have demonstrated genetic differences between MZ twins. We aimed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Diseases in Twins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Exome Sequencing

Share to Heart Defects, Congenital

Share to Infant, Newborn

Share to Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 29192580
DOI: 10.1017/thg.2017.57
PMCID: PMC5729853

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.PMID 29192580Read ↗

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart DefectsSemantic proximity Read ↗

Copy-number variation in congenital heart disease.Semantic proximity Read ↗

Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Semantic proximity Read ↗

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.Semantic proximity Read ↗

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.Semantic proximity Read ↗

The importance of copy number variation in congenital heart diseaseSemantic proximity Read ↗

Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort studySemantic proximity Read ↗

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Semantic proximity Read ↗

Genome-wide DNA methylation analysis of discordant monozygotic twins reveals consistent sites of differential methylation associated with congenital heart diseaseSemantic proximity Read ↗

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.Semantic proximity Read ↗

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practiceSemantic proximity Read ↗

Copy number variation of GATA4 and NKX2-5 in Chinese fetuses with congenital heart disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.