Author

Hatice Duzkale

Cincinnati Children's Hospital Medical CenterORCID 0000-0003-3091-5159Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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2019-2019 · peak 2/yr

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Ahmad N. Abou TayounORCID

Mutual co-authors in cluster

2 papers

GeneticsGenetics in MedicinePeer-reviewedJun 3, 2019

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

103 citationstop 3%

GenomicsGenetics in MedicinePeer-reviewedMar 20, 2019

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

88 citationstop 2%