4.5 Article

Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

Related references

Note: Only part of the references are listed.
Review Cardiac & Cardiovascular Systems

Genomic enhancers in cardiac development and disease

Chukwuemeka G. Anene-Nzelu et al.

Summary: The Human Genome Project marked a major milestone in understanding the importance of nucleotides and the role of the non-coding genome in regulating coding genes. Enhancers have been studied for decades, with recent focus on their role in disease and development, as well as potential for gene therapy in cardiovascular disease.

NATURE REVIEWS CARDIOLOGY (2022)

Review Cardiac & Cardiovascular Systems

Genomic frontiers in congenital heart disease

Sarah U. Morton et al.

Summary: Next-generation sequencing has provided new insights into the causes and mechanisms of congenital heart disease (CHD) by identifying damaging gene variants and shared pathways in organogenesis. Developmental single-cell transcriptomic data demonstrate the expression of CHD-associated genes in specific cell lineages, while genetic variants may disrupt multicellular interactions crucial for cardiogenesis.

NATURE REVIEWS CARDIOLOGY (2022)

Article Genetics & Heredity

Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project

Huijun Wang et al.

Summary: This study shows that both CNVs and SNVs play a role in the genetic causes of MCAs, and earlier genetic confirmation may lead to improved clinical management for patients.

HUMAN MUTATION (2021)

Article Critical Care Medicine

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

Bingbing Wu et al.

Summary: Trio-rapid genome sequencing showed higher diagnostic yield and faster turnaround time in critically ill infants compared to proband-only clinical exome sequencing. Following trio-rapid genome sequencing diagnosis, 21.6% of infants experienced a change in clinical management.

CRITICAL CARE MEDICINE (2021)

Article Medicine, General & Internal

Williams syndrome

Beth A. Kozel et al.

Summary: Williams syndrome is a rare genetic disorder caused by the microdeletion of a region of chromosome 7q11.23. It affects about 1:7,500 individuals, with cardinal features including cardiovascular disease, distinctive craniofacial appearance, intellectual disability, and hypersociability. Diagnosis at an earlier age due to technological advances has allowed for earlier intervention, but factors responsible for phenotypic variability remain unknown.

NATURE REVIEWS DISEASE PRIMERS (2021)

Review Cardiac & Cardiovascular Systems

Genetic Contribution to Congenital Heart Disease (CHD)

N. A. Shabana et al.

PEDIATRIC CARDIOLOGY (2020)

Article Medicine, General & Internal

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure

Keiichi Hirono et al.

JOURNAL OF CLINICAL MEDICINE (2020)

Review Public, Environmental & Occupational Health

Birth prevalence of congenital heart disease in China, 1980-2019: a systematic review and meta-analysis of 617 studies

Lijuan Zhao et al.

EUROPEAN JOURNAL OF EPIDEMIOLOGY (2020)

Article Genetics & Heredity

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Felix Richter et al.

NATURE GENETICS (2020)

Article Genetics & Heredity

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

Jair Antonio Tenorio Castano et al.

GENES (2020)

Article Genetics & Heredity

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Lin Yang et al.

GENETICS IN MEDICINE (2019)

Article Pediatrics

Prevalence of Congenital Heart Disease at Live Birth in China

Qu-Ming Zhao et al.

JOURNAL OF PEDIATRICS (2019)

Review Public, Environmental & Occupational Health

Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies

Yingjuan Liu et al.

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2019)

Article Multidisciplinary Sciences

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

W. Scott Watkins et al.

NATURE COMMUNICATIONS (2019)

Article Dentistry, Oral Surgery & Medicine

Effect of high-frequency loading and parathyroid hormone administration on peri-implant bone healing and osseointegration

Aya Shibamoto et al.

INTERNATIONAL JOURNAL OF ORAL SCIENCE (2018)

Article Obstetrics & Gynecology

Genetics and Genetic Testing in Congenital Heart Disease

Jason R. Cowan et al.

CLINICS IN PERINATOLOGY (2015)

Article Cardiac & Cardiovascular Systems

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

Alexander Egbe et al.

ANNALS OF PEDIATRIC CARDIOLOGY (2014)

Article Cardiac & Cardiovascular Systems

The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results

Bruce Gelb et al.

CIRCULATION RESEARCH (2013)

Article Multidisciplinary Sciences

De novo mutations in histone-modifying genes in congenital heart disease

Samir Zaidi et al.

NATURE (2013)

Review Cardiac & Cardiovascular Systems

Birth Prevalence of Congenital Heart Disease Worldwide A Systematic Review and Meta-Analysis

Denise van der Linde et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)

Review Cardiac & Cardiovascular Systems

The changing epidemiology of congenital heart disease

Teun van der Bom et al.

NATURE REVIEWS CARDIOLOGY (2011)

Review Cardiac & Cardiovascular Systems

Genetic syndromes and congenital heart defects: how is surgical management affected?

Roberto Formigari et al.

EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY (2009)

Article Pediatrics

Noncardiac comorbidities of congenital heart disease in children

Martial M. Massin et al.

ACTA PAEDIATRICA (2007)

Review Cardiac & Cardiovascular Systems

Prevalence of congenital heart disease

JIE Hoffman et al.

AMERICAN HEART JOURNAL (2004)