Author

Musaad F. Abukhalid

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· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Ahmet YeşilyurtiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Anju ShuklaiD· 1 shared Christopher J. CarrolliD· 1 shared Deniz KöriD· 1 shared Erum AfzaliD· 1 shared Eyyüp ÜçtepeiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

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1 paper

Recent·Most cited

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