Author

Firdous Abdulwahab

King Faisal Specialist Hospital & Research Centre

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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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Fowzan Sami AlkurayaiD· 3 shared Hanan E. ShamseldiniD· 2 shared Africa-Wits INDEPTH (AWI-Gen)· 1 shared Ahmet YeşilyurtiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Andrew DiStasio· 1 shared Anju ShuklaiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Fowzan Sami AlkurayaORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Locus 9p21.3 CAD Risk Across Diverse Populations: LD and Allelic Heterogeneity Explain Variation Across Ancestries and Reduced Replication in Africans

Hasan Alkhairo, Satoshi Koyama, Kruthika Raman Iyer, Austin T. Hilliard, Pik Fang Kho, Shoa L. Clarke, Firdous Abdulwahab, Themistocles L. Assimes, Julie Ann Lynch, Michèle Ramsay, Human Heredity and Health in Africa (H3Africa), Africa-Wits INDEPTH (AWI-Gen), VA Million Veteran Program (MVP), Kyong‐Mi Chang, Philip S. Tsao, , Catherine Tcheandjieu

The paper investigates why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

medRxiv · Jan 3, 2026 · PreprintGenetic & Genomic Medicine

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, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad F. Abukhalid, Muhammad Ansar, , William G. Newman

The American Journal of Human Genetics · Mar 4, 2025Peer-reviewedGenetic & Genomic Medicine

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

Rebekah Rushforth, Hanan E. Shamseldin, Nicole Costantino, JES-Rite Michaels, Sarah L. Sawyer, Matthew Osmond, Wesam Kurdi, Firdous Abdulwahab, Andrew DiStasio, Kym M. Boycott, Fowzan Sami Alkuraya, Rolf W. Stottmann

This study identifies NUBP2 deficiency as a cause of primary microcephaly by showing its role in centrosome and cilia regulation during neurogenesis.

medRxiv · Jan 16, 2025 · PreprintGenetic & Genomic Medicine