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Page 1
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: almoguera b. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.
Hu Y, Graff M, Haessler J, Buyske S, Bien SA, Tao R, Highland HM, Nishimura KK, Zubair N, Lu Y, Verbanck M, Hilliard AT, Klarin D, Damrauer SM, Ho YL; VA Million Veteran Program; Wilson PWF, Chang KM, Tsao PS, Cho K, O'Donnell CJ, Assimes TL, Petty LE, Below JE, Dikilitas O, Schaid DJ, Kosel ML, Kullo IJ, Rasmussen-Torvik LJ, Jarvik GP, Feng Q, Wei WQ, Larson EB, Mentch FD, Almoguera B, Sleiman PM, Raffield LM, Correa A, Martin LW, Daviglus M, Matise TC, Ambite JL, Carlson CS, Do R, Loos RJF, Wilkens LR, Le Marchand L, Haiman C, Stram DO, Hindorff LA, North KE, Kooperberg C, Cheng I, Peters U. Hu Y, et al. Among authors: almoguera b. PLoS Genet. 2020 Mar 30;16(3):e1008684. doi: 10.1371/journal.pgen.1008684. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32226016 Free PMC article.
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA. Rasmussen-Torvik LJ, et al. Among authors: almoguera b. J Mol Diagn. 2017 Jul;19(4):561-566. doi: 10.1016/j.jmoldx.2017.04.002. Epub 2017 May 11. J Mol Diagn. 2017. PMID: 28502727 Free PMC article.
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.
Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston KC, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC, Wilson ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ, Saxena R. Gray KJ, et al. Among authors: almoguera b. Hypertension. 2018 Aug;72(2):408-416. doi: 10.1161/HYPERTENSIONAHA.117.10688. Epub 2018 Jul 2. Hypertension. 2018. PMID: 29967039 Free PMC article.
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JM, Gieger C, Goel A, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, McDonough CW, Meijs MF, Melander O, Nelson CP, Nolte IM, Pankratz N, Price TS, Shaffer J, Shah S, Tomaszewski M, van der Most PJ, Van Iperen EP, Vonk JM, Witkowska K, Wong CO, Zhang L, Beitelshees AL, Berenson GS, Bhatt DL, Brown M, Burt A, Cooper-DeHoff RM, Connell JM, Cruickshanks KJ, Curtis SP, Davey-Smith G, Delles C, Gansevoort RT, Guo X, Haiqing S, Hastie CE, Hofker MH, Hovingh GK, Kim DS, Kirkland SA, Klein BE, Klein R, Li YR, Maiwald S, Newton-Cheh C, O'Brien ET, Onland-Moret NC, Palmas W, Parsa A, Penninx BW, Pettinger M, Vasan RS, Ranchalis JE, M Ridker P, Rose LM, Sever P, Shimbo D, Steele L, Stolk RP, Thorand B, Trip MD, van Duijn CM, Verschuren WM, Wijmenga C, Wyatt S, Young JH, Zwinderman AH, Bezzina CR, Boerwinkle E, Casas JP, Caulfield MJ, Chakravarti A, Chasman DI, Davidson KW, Doevendans PA, Dominiczak AF, FitzGerald GA, Gums JG, Fornage M, Hakonarson H, Halder I, Hilleg… See abstract for full author list ➔ Tragante V, et al. Among authors: almoguera b. Am J Hum Genet. 2014 Mar 6;94(3):349-60. doi: 10.1016/j.ajhg.2013.12.016. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560520 Free PMC article.
Transplantation genetics: current status and prospects.
Almoguera B, Shaked A, Keating BJ. Almoguera B, et al. Am J Transplant. 2014 Apr;14(4):764-78. doi: 10.1111/ajt.12653. Epub 2014 Mar 11. Am J Transplant. 2014. PMID: 24618335 Free article. Review.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
74 results