Author

John H. Greinwald

Cincinnati Children's Hospital Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:database / resource· 2 Assay:GWAS summary statistics· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 3 shared Andrea M. OzaiD· 3 shared Andrew R. GrantiD· 3 shared Anne B. Skvorak GierschiD· 3 shared Arti PandyaiD· 3 shared Cynthia Casson MortoniD· 3 shared Heidi L. RehmiD· 3 shared Héla AzaieziD· 3 shared

Activity by Year

2019-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ahmad N. Abou TayounORCID

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3 papers

Recent·Most cited

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, , Kejian Zhang

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

Genetics in Medicine · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok Peter Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, , Lisa A. Schimmenti

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

Genetics in Medicine · Jun 3, 2019Peer-reviewedGenetics

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics