Author

Hannah M. Bombei

Observed names: Hannah Bombei, Hannah M Bombei

Institutions: University of Iowa, University of Iowa Hospitals and Clinics, University of Iowa Stead Family Children’s Hospital, University of Iowa Health Care

Observed institutions: University of Iowa, Cliniques Universitaires Saint-Luc, Garrahan Hospital, Hospital de Sant Pau, University of Iowa Hospitals and Clinics, University of Iowa Stead Family Children’s Hospital, de Duve Institute, University of Iowa Health Care, UCLouvain

OpenAlex ID: A5089488407

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

2017 · Mustapha Amyere, Nicole Revencu, et al. · Circulation · 299

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

2018 · Yuri A. Zarate, Constance L. Smith‐Hicks, et al. · American Journal of Medical Genetics Part A · 71

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

2020 · David J. Tester, Hannah M. Bombei, et al. · JAMA Cardiology · 28

Genotype–phenotype correlation at codon 1740 of SETD2

2020 · Rachel Rabin, Alireza Radmanesh, et al. · American Journal of Medical Genetics Part A · 25

Molecular characterization of the calcium release channel deficiency syndrome

2020 · David J. Tester, CS John Kim, et al. · JCI Insight · 21

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

2021 · Anne Gregor, Tanja Meerbrei, et al. · Human Molecular Genetics · 16

Dental issues in lacrimo-auriculo-dento-digital syndrome

2016 · MJ Hajianpour, Hannah Bombei, et al. · The Journal of the American Dental Association · 14

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

2025 · Christopher C.Y. Mak, Hannah Klinkhammer, et al. · EBioMedicine · 10

P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*

2024 · Moon Ley Tung, Bharatendu Chandra, et al. · Genetics in Medicine Open · 1

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis

2026 · Laura M. Watts, Michelle S.M. Chang, et al. · Genetics in Medicine

eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome

2022 · Moon Ley Tung, Taylor Warner, et al. · Genetics in Medicine

Abstract 12295: Characterization of a Novel Homozygous Multi-exon Ryr2 Duplication Associated With Exertion-related Sudden Unexplained Death in the Young in the Amish Community Using Patient-specific Hipsc-cardiomyocytes

2019 · David J. Tester, CS John Kim, et al. · Circulation

Abstract 12260: Whole Exome Molecular Autopsy With Copy Number Variant Analysis of Multiple Autopsy Negative Sudden Unexplained Deaths Among Amish Siblings Yields the Discovery of a Novel Homozygous Multi-exon Duplication in the Ryr2-Encoded Ryanodine Receptor

2019 · David J. Tester, Hannah Bombei, et al. · Circulation

Cover Image, Volume 176A, Number 4, April 2018

2018 · Yuri A. Zarate, Constance L. Smith‐Hicks, et al. · American Journal of Medical Genetics Part A

Works count: 14

Citation count: 485

H-index: 8

I10-index: 8