Author

Iram Anjum

Kinnaird College for Women UniversityORCID 0000-0002-9015-3179Unclaimed 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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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Brage Storstein AndreseniD· 1 shared Gitte Hoffmann BruuniD· 1 shared Hamna Akhtar· 1 shared Karen GrønskoviD· 1 shared Lars Allan LarseniD· 1 shared Line KesseliD· 1 shared Menachem Viktor SarusieiD· 1 shared Muhammad FarooqiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Brage Storstein AndresenORCID

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Author profile →

1 paper

Recent·Most cited

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR

Muhammad Farooq, Gitte Hoffmann Bruun, Menachem Viktor Sarusie, Line Kessel, Hamna Akhtar, Uzma Abdullah, Zafar Ali, Sajjad Ali Shah, Nijat Ali, Iram Anjum, Thomas Koed Doktor, Brage Storstein Andresen, Shahid Mahmood Baig, Lars Allan Larsen, Karen Grønskov

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

European Journal of Human Genetics · Mar 11, 2026Peer-reviewedGenetic & Genomic Medicine