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Page 1
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.
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
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.
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder.
Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G. Lingren T, et al. Among authors: vazquez l. PLoS One. 2016 Jul 29;11(7):e0159621. doi: 10.1371/journal.pone.0159621. eCollection 2016. PLoS One. 2016. PMID: 27472449 Free PMC article.
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.
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies.
Jackson KL, Mbagwu M, Pacheco JA, Baldridge AS, Viox DJ, Linneman JG, Shukla SK, Peissig PL, Borthwick KM, Carrell DA, Bielinski SJ, Kirby JC, Denny JC, Mentch FD, Vazquez LM, Rasmussen-Torvik LJ, Kho AN. Jackson KL, et al. Among authors: vazquez lm. BMC Infect Dis. 2016 Nov 17;16(1):684. doi: 10.1186/s12879-016-2020-2. BMC Infect Dis. 2016. PMID: 27855652 Free PMC article.
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.
712 results