Author

Sakina Rehman

University of Maryland, BaltimoreORCID 0000-0003-2253-0750Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Saima RiazuddiniD· 2 shared Zubair M. AhmediD· 2 shared Ahmet YeşilyurtiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Andrew J. ParkeriD· 1 shared Anju ShuklaiD· 1 shared Arnaud P. J. GieseiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Saima RiazuddinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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NeuroscienceDisease Models & MechanismsPeer-reviewedMar 1, 2025

CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern

Arnaud P. J. Giese, Andrew J. Parker, Sakina Rehman…·Zubair M. Ahmed

The paper investigates the distinct roles of CIB2 and whirlin in cochlear stereocilia development and shows that CIB2 has independent functions from whirlin in maintaining the staircase pattern.

1 citation

mouseexperimental assay

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