Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status-Reference-Cited by-同舟云学术

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Published:2019-06-20 Issue:13 Volume:111 Page:888-905
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Xie Hongbo M.¹^ORCID,Taylor Deanne M.¹,Zhang Zhe¹,McDonald‐McGinn Donna M.²,Zackai Elaine H.²³,Stambolian Dwight⁴,Hakonarson Hakon⁵,Morrow Bernice E.⁶,Emanuel Beverly S.²³,Goldmuntz Elizabeth³⁷

Affiliation:

1. Department of Biomedical and Health InformaticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. Division of Human GeneticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Department of PediatricsPerelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania

4. Department of Ophthalmology and Human GeneticsUniversity of Pennsylvania, Perelman School of Medicine Philadelphia Pennsylvania

5. The Center for Applied Genomics, Department of PediatricsThe Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania

6. Department of GeneticsYeshiva University, Albert Einstein College of Medicine Bronx New York

7. Division of CardiologyThe Children's Hospital of Philadelphia, Department of Pediatrics Philadelphia Pennsylvania

Funder

National Eye Institute

National Center for Advancing Translational Sciences

National Center for Research Resources

National Institutes of Health

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1534

Reference41 articles.

1. Of mice and men: molecular genetics of congenital heart disease

2. G Protein Coupled Receptor Kinases as Therapeutic Targets in Cardiovascular Disease

3. Gata4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure

4. RNA binding proteins in the regulation of heart development

5. Building the mammalian heart from two sources of myocardial cells

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1. Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation;OMICS: A Journal of Integrative Biology;2024-07-01

2. Gene-Interaction-Sensitive enrichment analysis in congenital heart disease;BioData Mining;2022-02-12

3. 22q11.2 deletion syndrome: Setting the stage;The Chromosome 22q11.2 Deletion Syndrome;2022

4. Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States;Genes;2021-07-01