Author

Nijat Ali

Bacha Khan UniversityORCID 0000-0001-9153-5139Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Iram AnjumiD· 1 shared Karen GrønskoviD· 1 shared Lars Allan LarseniD· 1 shared Line KesseliD· 1 shared Menachem Viktor SarusieiD· 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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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMar 11, 2026

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…·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.

3 citationstop 2%

humanstatistical model

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