Author

Nada Danial‐Farran

Tel Aviv UniversityORCID 0000-0001-8092-3144Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Karen B. AvrahamiD· 2 shared Morad KhayatiD· 2 shared Shahar TaiberiD· 2 shared Stavit Allon ShaleviD· 2 shared Amal Abu RayyaniD· 1 shared Amihood Singer· 1 shared Amir PelegiD· 1 shared Asgeir Orn ArnthorssoniD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Karen B. AvrahamORCID

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2 papers

Recent·Most cited

GeneticsEuropean Journal of Human GeneticsPeer-reviewedSep 16, 2020

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Nada Danial‐Farran, Elena Chervinsky, Prathamesh T. Nadar‐Ponniah…·Stavit Allon Shalev

This study investigates a homozygous frameshift variant in the COCH gene, showing it causes loss-of-function through reduced cochlin translation, impacting genetic counseling for carriers.

13 citations

humanexperimental assay

𝕏 PostBluesky

GeneticsClinical GeneticsPeer-reviewedJul 20, 2020

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh…·Karen B. Avraham

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.

31 citations

humanwhole-exome sequencing

𝕏 PostBluesky