Research Interests (Molecular Genetics and Biotechnology)
Featured Publications
1. Alamri A, Alharrasi O, Alkhayat A, Al-Khabori M, AlRawas A, Wali Y. Characterization of Factor 8 Gene Variants in Patients With Hemophilia A. J Pediatr Hematol Oncol. 2025 Jan 1;47(1):47-48. doi: 10.1097/MPH.0000000000002962. Epub 2024 Nov 18. PMID: 39737630.
2. Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Erratum in: Brain. 2022 Oct 21;145(10):e103. doi: 10.1093/brain/awac254. PMID: 35718349; PMCID: PMC9473353.
3. Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. PMID: 28052917; PMCID: PMC5382949.
4. Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. PMID: 28334956; PMCID: PMC5382943.
5. Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. PMID: 25832664; PMCID: PMC4424132.