Author

Diamanto Skopelitou

German Cancer Research Center

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

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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aayushi SrivastavaiD· 1 shared Abhishek KumariD· 1 shared Asta FörstiiD· 1 shared Beiping MiaoiD· 1 shared Elena BonoraiD· 1 shared Kari HemminkiiD· 1 shared Nagarajan ParamasivamiD· 1 shared Obul Reddy BandapalliiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenomics

Aayushi SrivastavaORCID

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1 paper

Recent·Most cited

A novel germline mutation in the POT1 gene predisposes to familial non-medullary thyroid cancer

Aayushi Srivastava, Beiping Miao, Diamanto Skopelitou, Varun Kumar, Abhishek Kumar, Nagarajan Paramasivam, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli

This study identifies a novel germline POT1 mutation (p.V29L) associated with familial non-medullary thyroid cancer and shows it causes telomere dysfunction.

Cancers · Jun 1, 2020Peer-reviewedGenomics