Author

Yahya AlSwaiti

St John of Jerusalem Eye Hospital Group

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

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrian DockeryiD· 1 shared Alaa AlTalbishiiD· 1 shared Alexander HoischeniD· 1 shared Ana FakiniD· 1 shared Andrea Louise VincentiD· 1 shared Anna Maria TracewskaiD· 1 shared Anna MatyniaiD· 1 shared Aurore DevosiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adrian DockeryORCID

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1 paper

Recent·Most cited

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, , Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

Genetics in Medicine · Apr 19, 2020Peer-reviewedGenetics