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Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV. Guo Y, et al. Among authors: vazquez l. Ophthalmic Genet. 2015;36(4):333-8. doi: 10.3109/13816810.2014.886269. Epub 2014 Feb 19. Ophthalmic Genet. 2015. PMID: 24547928
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. Among authors: vazquez l. JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515575 Free PMC article.
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. Among authors: vazquez l. JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. JIMD Rep. 2014. PMID: 24973975 Free PMC article. No abstract available.
Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.
Hysinger EB, Roizen JD, Mentch FD, Vazquez L, Connolly JJ, Bradfield JP, Almoguera B, Sleiman PM, Allen JL, Levine MA, Hakonarson H. Hysinger EB, et al. Among authors: vazquez l. J Allergy Clin Immunol. 2016 Dec;138(6):1747-1749.e4. doi: 10.1016/j.jaci.2016.06.056. Epub 2016 Aug 20. J Allergy Clin Immunol. 2016. PMID: 27554823 Free PMC article. No abstract available.
Novel locus for atopic dermatitis in African Americans and replication in European Americans.
Almoguera B, Vazquez L, Mentch F, March ME, Connolly JJ, Peissig PL, Linneman JG, Plaza-Serón MDC, Pino-Yanes M, Burchard EG, Brilliant M, Sleiman P, Hakonarson H. Almoguera B, et al. Among authors: vazquez l. J Allergy Clin Immunol. 2019 Mar;143(3):1229-1231. doi: 10.1016/j.jaci.2018.10.038. Epub 2018 Nov 9. J Allergy Clin Immunol. 2019. PMID: 30414857 No abstract available.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
696 results