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890 results

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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Calame DG, et al. Among authors: gibbs ra. Ann Clin Transl Neurol. 2021 Oct;8(10):2052-2058. doi: 10.1002/acn3.51454. Epub 2021 Sep 15. Ann Clin Transl Neurol. 2021. PMID: 34524739 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 in a patient with Charcot-Marie-Tooth neuropathy.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Lupski JR, et al. Among authors: gibbs ra. N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10. N Engl J Med. 2010. PMID: 20220177 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.
Exome capture sequencing identifies a novel mutation in BBS4.
Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Wang H, et al. Among authors: gibbs ra. Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219648 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.
890 results