Bendel-Stenzel, Ellen M
Mayo Clinic
Division of Neonatology, Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN.
Citations 2
Ultra‐rapid whole genome sequencing: A paradigm shift in the pre‐transplant evaluation of neonatal acute liver failure
Thompson, Whitney S. , Greenmyer, Jacob R. , Lanpher, Brendan C. , Bendel‐Stenzel, Ellen M., Hobbs, Charlotte A. , Ibrahim, Samar H. , Hildreth, Amber , Brumbaugh, Jane E. , Bendel-Stenzel, Ellen M, Ibrahim, Samar H , Hildreth, Amber N , Thompson, Whitney S , Bendel‐Stenzel, Ellen , Dimmock, David
Liver Transplantation | July 21, 2022 | Volume: 29 | Issue: 1 | Pages: 118-121
Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease
Heidenreich, Leah S. , Bendel‐Stenzel, Ellen , Hanna, Christian , Bendel-Stenzel, Ellen M, Hanna, Christian , Harris, Peter C.
NeoReviews | March 1, 2022 | Volume: 23 | Issue: 3 | Pages: e175-e188
Fetal kidney development is a complex and carefully orchestrated process. The proper formation of kidney tissue involves many transcription factors and signaling pathways. Pathogenic variants in the genes that encodethese factors and proteins can result in neonatal cystic kidney disease. Advancements in genomic sequencing have allowed us to identify many of these variants and better understand the genetic underpinnings for an increasing number of presentations of childhood kidney disorders. This review discusses the genes essential in kidney development, particularly those involved in the structure and function of primary cilia, and implications of gene identification for prognostication and management of cystic kidney disorders.