Author

Arda Çetinkaya

Hacettepe UniversityORCID 0000-0002-3528-9495Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:zebrafish· 1

Frequent Co-Authors

Abigail LohiD· 1 shared Afaf Alsubhi· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Ajay Sriram MathuruiD· 1 shared Ayse Gurel· 1 shared Beril TalimiD· 1 shared Bertrand BoissoniD· 1 shared Bruno ReversadeiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail LohORCID

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1 paper

Recent·Most cited

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Q. E. Lee, Shan Zhang, Beril Talim, Abigail Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred W. Rensvold, Şule Ünal, Evgenia Shishkova, , Bruno Reversade

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

The American Journal of Human Genetics · May 25, 2021Peer-reviewedGenetic & Genomic Medicine