Concepedia

Hannah Bombei

HB

7

Publications

445

Citations

7

H-Index

2016

Active since

Affiliations

University of Iowa Hospitals and Clinics(Current)

WinnMed

University of California, San Francisco

University Hospital Leipzig

University Hospital Southampton NHS Foundation Trust

Hannah Bombei is an author at University of Iowa Hospitals and Clinics specializing in gene expression, medicine, and genetics.

Top concepts

Publications per year

2016–2021

7

Publications

7

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers et al. · Circulation · 2017 · 282 citations · Full text

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations

Identification of a Novel Homozygous Multi-Exon Duplication in <i>RYR2</i> Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

David J. Tester, Hannah Bombei, Kristi K. Fitzgerald et al. · JAMA Cardiology · 2020 · 25 citations · Full text

Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>

Rachel Rabin, Alireza Radmanesh, Ian A. Glass et al. · American Journal of Medical Genetics Part A · 2020 · 23 citations · Full text

Molecular characterization of the calcium release channel deficiency syndrome

David J. Tester, Cs John Kim, Samantha K. Hamrick et al. · JCI Insight · 2020 · 18 citations · Full text

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