Author

Sedat Işıkay

Gaziantep İslam Bilim ve Teknoloji ÜniversitesiORCID 0000-0003-0103-9612Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

James R. LupskiiD· 3 shared Henry HouldeniD· 2 shared Maha Saad ZakiiD· 2 shared Reza MaroofianiD· 2 shared Robin Dawn ClarkiD· 2 shared Stéphanie EfthymiouiD· 2 shared Abigail LohiD· 1 shared Afaf Alsubhi· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

James R. LupskiORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMay 25, 2021

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

Hui Hui Wong, Sze Hwee Seet, Michael Maier…·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.

23 citations

humanzebrafish

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GeneticsbioRxivPreprintApr 17, 2019

ANKLE2, a target of Zika virus, controls asymmetric cell division of neuroblasts and uncovers a novel microcephaly pathway

Nichole Link, Hyung-Lok Chung, Angad Jolly…·Hugo Jozef Bellen

This study identifies ANKLE2 as a Zika virus target that regulates neuroblast asymmetric division, linking it to microcephaly and motor neuron disease through interactions with VRK1 and LLGL1.

4 citations

Drosophilaexperimental assay

𝕏 PostBluesky