Work

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis

Year: 2023

Type: article

Study design: Case Report

Source: Pediatric Research

DOI: 10.1038/s41390-023-02811-y

Authors: Jun Yasuhara, Sathiya N. Manivannan, Uddalak Majumdar, David M. Gordon, Patrick J. Lawrence, Mona Aljuhani, Katherine Myers, Corey Stiver, Amee M. Bigelow, Mark Galantowicz, Hiroyuki Yamagishi, Kim L. McBride, Peter White, Vidu Garg

Institutions: Nationwide Children's Hospital, Abigail Wexner Research Institute, The Ohio State University, Keio University, Keio University Hospital

Language: English

Topic: Congenital heart defects research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, Japan Society for the Promotion of Science, National Heart, Lung, and Blood Institute

Awards: Basic research for preventive medicine by regulating cardiac progenitor cell development using model animals and iPS cells, A Multi-omic approach towards improving candidate gene identification and variant prioritization in patients with congenital heart disease, Exome sequencing and functional studies in familial CHD

OpenAlex ID: W4386629337

FWCI: 1.058

Cites: 86

Cited by: 14

Related to: 10