Hannah M. Bombei - Div Med Genet & Genom, Univ Iowa Hosp & Clin

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论文共 12 篇作者统计合作学者相似作者

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P145: Paradigm Shift in Occam’s Razor and the Need for Genotype Driven Reverse Phenotyping in Rare Diseases with Complex Phenotypes*

Moon Ley Tung,Bharatendu Chandra,Jaime Nagy,Hatem El-Shanti,John Bernat,Nicole Safina,Amy Calhoun, Georgianne Younger,Kyle Dillahunt, Anna Paulson,Taylor Warner,Hannah Bombei,Jaclyn Kotlarek

Genetics in Medicine Open (2024): 101042

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FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 28-29

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Ep263: A Pathogenic Deletion at 13q32.1q33.1 Presenting with Bilateral Sensorineural Hearing Loss and Pigmentation Anomalies, Mimicking Waardenburg Syndrome

Moon Ley Tung,Taylor Warner,Hannah Bombei,Nicole Safina,Jaime Nagy

GENETICS IN MEDICINEno. 3 (2022): S166-S167

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De Novo Missense Variants in FBXO11 Alter Its Protein Expression and Subcellular Localization

Human molecular genetics online/Human molecular genetics（2021）

引用5浏览0WOS引用

Genotype–phenotype correlation at codon 1740 of SETD2

American Journal of Medical Genetics Part Ano. 9 (2020): 2037-2048

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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

David J. Tester,Hannah Bombei,Kristi K. Fitzgerald,John R. Giudicessi,Beth A. Pitel,Erik C. Thorland, Barbara Russell,Samantha K. Hamrick,CS John Kim,Carla Haglund-Turnquist,Christopher L. Johnsrude,Dianne L. Atkins,Luis Ochoa,Ian H. Law,Joel Temple,Michael J. Ackerman

Circulation（2019）

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

Yuri A. Zarate,Constance L. Smith‐Hicks,Carol Greene,Mary‐Alice Abbott,Victoria M. Siu,Amy R. U. L. Calhoun,Arti Pandya,Chumei Li,Elizabeth A. Sellars,Julie Kaylor,Katherine Bosanko,Louisa Kalsner,Alice Basinger,Anne M. Slavotinek,Hazel Perry,Margarita Saenz,Marta Szybowska,Louise C. Wilson,Ajith Kumar,Caroline Brain,Meena Balasubramanian,Holly Dubbs,Xilma R. Ortiz‐Gonzalez,Elaine Zackai,Quinn Stein,Cynthia M. Powell,Samantha Schrier Vergano,Allison Britt,Angela Sun,Wendy Smith,E. Martina Bebin,Jonathan Picker,Amelia Kirby,Hailey Pinz,Hannah Bombei,Sonal Mahida,Julie S. Cohen,Ali Fatemi,Hilary J. Vernon,Rebecca McClellan,Leah R. Fleming,Brittney Knyszek,Michelle Steinraths,Cruz Velasco Gonzalez,Anita E. Beck,Katie L. Golden‐Grant,Alena Egense,Aditi Parikh,Chantalle Raimondi,Brad Angle,William Allen,Suzanna Schott,Adi Algrabli,Nathaniel H. Robin,Joseph W. Ray,David B. Everman,Michael J. Gambello,Wendy K. Chung

American Journal of Medical Genetics Part A（2018）

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

American Journal of Medical Genetics Part A（2018）

引用45浏览0引用

Natural History and Genotype‐phenotype Correlations in 72 Individuals with SATB2‐associated Syndrome

Yuri A. Zarate,Constance L. Smith-Hicks,Carol Greene,Mary-Alice Abbott,Victoria M. Siu,Amy R. U. L. Calhoun,Arti Pandya,Chumei Li,Elizabeth A. Sellars,Julie Kaylor,Katherine Bosanko,Louisa Kalsner,Alice Basinger,Anne M. Slavotinek,Hazel Perry,Margarita Saenz,Marta Szybowska,Louise C. Wilson,Ajith Kumar,Caroline Brain,Meena Balasubramanian,Holly Dubbs,Xilma R. Ortiz-Gonzalez,Elaine Zackai,Quinn Stein,Cynthia M. Powell,Samantha Schrier Vergano,Allison Britt,Angela Sun,Wendy Smith,E. Martina Bebin,Jonathan Picker,Amelia Kirby,Hailey Pinz,Hannah Bombei,Sonal Mahida,Julie S. Cohen,Ali Fatemi,Hilary J. Vernon,Rebecca McClellan,Leah R. Fleming,Brittney Knyszek,Michelle Steinraths,Cruz Velasco Gonzalez,Anita E. Beck,Katie L. Golden-Grant,Alena Egense,Aditi Parikh,Chantalle Raimondi,Brad Angle,William Allen,Suzanna Schott,Adi Algrabli,Nathaniel H. Robin,Joseph W. Ray,David B. Everman,Michael J. Gambello,Wendy K. Chung

American journal of medical genetics Part A（2018）

引用47浏览0WOS引用

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