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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R. Lin S, et al. Among authors: baker w. Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20. Eur J Hum Genet. 2021. PMID: 34012134 Free PMC article.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Khalaf-Nazzal R, et al. Among authors: baker w. Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283405 Free PMC article.
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE. Khalaf-Nazzal R, et al. Among authors: baker w. Am J Med Genet A. 2024 Jul;194(7):e63579. doi: 10.1002/ajmg.a.63579. Epub 2024 Mar 4. Am J Med Genet A. 2024. PMID: 38436550
Electroconvulsive therapy generates a hidden wave after seizure.
Rosenthal ZP, Majeski JB, Somarowthu A, Quinn DK, Lindquist BE, Putt ME, Karaj A, Favilla CG, Baker WB, Hosseini G, Rodriguez JP, Cristancho MA, Sheline YI, Shuttleworth CW, Abbott CC, Yodh AG, Goldberg EM. Rosenthal ZP, et al. Among authors: baker wb. bioRxiv [Preprint]. 2024 Nov 1:2024.10.31.621357. doi: 10.1101/2024.10.31.621357. bioRxiv. 2024. PMID: 39554135 Free PMC article. Preprint.
1,297 results