Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia-Reference-Cited by-同舟云学术

Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia

Published:2018-03-23 Issue:7 Volume:110 Page:610-617
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Matsunami Nori¹,Shanmugam Hari²,Baird Lisa¹,Stevens Jeff¹,Byrne Janice L.³,Barnhart Douglas C.⁴,Rau Carrie²,Feldkamp Marcia L.⁵^ORCID,Yoder Bradley A.²,Leppert Mark F.¹,Yost H. Joseph⁶,Brunelli Luca²⁷^ORCID

Affiliation:

1. Departments of Human Genetics, Eccles Institute of Human Genetics; University of Utah School of Medicine; Salt Lake City Utah

2. Department of Pediatrics (Neonatology); University of Utah School of Medicine; Salt Lake City Utah

3. Departments of Obstetrics and Gynecology; University of Utah School of Medicine; Salt Lake City Utah

4. Division of Pediatric Surgery, Primary Children's Medical Center; University of Utah School of Medicine; Salt Lake City Utah

5. Department of Pediatrics (Medical Genetics); University of Utah School of Medicine; Salt Lake City Utah

6. Department of Neurobiology & Anatomy and Department of Pediatrics; University of Utah School of Medicine; Salt Lake City Utah

7. Department of Pediatrics (Neonatology); University of Nebraska Medical Center and Children's Hospital & Medical Center; Omaha NE

Funder

NIH/NICHD

Publisher

Wiley

Subject

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

Reference29 articles.

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2. Rare variants in NR2F2 cause congenital heart defects in humans;Al Turki;American Journal of Human Genetics,2014

3. A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia;Arrington;American Journal of Medical Genetics: Part A,2012

4. Recent developments in the genetic factors underlying congenital diaphragmatic hernia;Brady;Fetal Diagnosis and Therapy,2011

5. Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: A report from the congenital diaphragmatic hernia study group;Graziano;Journal of Pediatric Surgery,2005

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1. First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology;Congenital Anomalies;2023-08-04

2. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays;European Journal of Human Genetics;2023-07-27

3. 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature;American Journal of Medical Genetics Part A;2023-07-12

4. Connecting clinical, environmental, and genetic factors point to an essential role for vitamin A signaling in the pathogenesis of congenital diaphragmatic hernia;American Journal of Physiology-Lung Cellular and Molecular Physiology;2023-04-01

5. Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia;Prenatal Diagnosis;2022-11-26