Author

Albert Rübben

Universitätsklinikum AachenORCID 0000-0002-2704-4754Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anette BygumiD· 1 shared Antonio TorreloiD· 1 shared Carlo FerrazzanoiD· 1 shared Chenfu ShiiD· 1 shared D. Chas ManghamiD· 1 shared D. Gareth EvansiD· 1 shared Derek PyeiD· 1 shared Faris Abuzahra· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anette BygumORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineBritish Journal of DermatologyPeer-reviewedAug 20, 2022

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

Yanshan Liu, Siddharth Banka, Yingzhi Huang…·Xue Zhang

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

19 citations

humanwhole-exome sequencing

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