Publications

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Filters: Keyword is Male and Author is Eyaid, Wafaa  [Clear All Filters]
Journal Article
Wong HHui, Seet SHwee, Maier M, Gurel A, Traspas RMoreno, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TShin, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Men DUğurlu Ç, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NAin, Choo SChin, Keng SSok, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TThao Nguye, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GTaj, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova J-L, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AMohammad, Saleh MAM, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong L-J, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.