Author

Hamna Akhtar

Government College University, Faisalabad

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Iram AnjumiD· 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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Brage Storstein AndresenORCID

Mutual co-authors in cluster

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