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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: gibbs ra. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Li Y, et al. Among authors: gibbs ra. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1336-43. doi: 10.1167/iovs.08-2589. Epub 2008 Oct 20. Invest Ophthalmol Vis Sci. 2009. PMID: 18936139 Free PMC article.
Whole-genome sequencing for optimized patient management.
Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Bainbridge MN, et al. Among authors: gibbs ra. Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243. Sci Transl Med. 2011. PMID: 21677200 Free PMC article.
Human genome sequencing in health and disease.
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Gonzaga-Jauregui C, et al. Among authors: gibbs ra. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. Annu Rev Med. 2012. PMID: 22248320 Free PMC article. Review.
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Lupski JR, et al. Among authors: gibbs ra. Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013. Genome Med. 2013. PMID: 23806086 Free PMC article.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Yang Y, et al. Among authors: gibbs ra. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088041 Free PMC article.
873 results