Work

VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects

Year: 2020

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2020.10.013

Authors: Katie G. Seu, Lisa R. Trump, Sana Emberesh, Robert B. Lorsbach, Clarissa Johnson, Jessica Meznarich, Hunter R. Underhill, Stella T. Chou, Haripriya Sakthivel, Nicolas N. Nassar, Kalani J. Seu, Lionel Blanc, Wenying Zhang, Carolyn M. Lutzko, Theodosia A. Kalfa

Institutions: Cincinnati Children's Hospital Medical Center, Earlham College, University of Cincinnati, University of Cincinnati Medical Center, Cook Children's Medical Center, Intermountain Healthcare, Primary Children's Hospital, University of Utah, Children's Hospital of Philadelphia, University of Pennsylvania, Feinstein Institute for Medical Research, Hofstra University, Donald & Barbara Zucker School of Medicine at Hofstra/Northwell

Language: English

Topic: Cellular transport and secretion

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of General Medical Sciences

Awards: Resource for Biocomputing Visualization and Informatics, Rho GTPases in Terminal Erythroid Maturation, G-CSF in Human Severe Congenital Neutropenia

OpenAlex ID: W3099084325

FWCI: 2.368

Cites: 27

Cited by: 34

Related to: 10