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Page 1
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Du R, et al. Among authors: below je. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. Hum Genet. 2018. PMID: 30046887 Free PMC article.
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz KC, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D; AMP-T2D Consortium; Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J. Costanzo MC, et al. Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23. Cell Metab. 2023. PMID: 36963395 Free PMC article.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Below JE, et al. Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273567 Free PMC article.
Secondary findings and carrier test frequencies in a large multiethnic sample.
Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Gambin T, et al. Among authors: below je. Genome Med. 2015 Jun 13;7(1):54. doi: 10.1186/s13073-015-0171-1. eCollection 2015. Genome Med. 2015. PMID: 26195989 Free PMC article.
PADRE: Pedigree-Aware Distant-Relationship Estimation.
Staples J, Witherspoon DJ, Jorde LB, Nickerson DA; University of Washington Center for Mendelian Genomics; Below JE, Huff CD. Staples J, et al. Among authors: below je. Am J Hum Genet. 2016 Jul 7;99(1):154-62. doi: 10.1016/j.ajhg.2016.05.020. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374771 Free PMC article.
Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.
Wang H, Cade BE, Chen H, Gleason KJ, Saxena R, Feng T, Larkin EK, Vasan RS, Lin H, Patel SR, Tracy RP, Liu Y, Gottlieb DJ, Below JE, Hanis CL, Petty LE, Sunyaev SR, Frazier-Wood AC, Rotter JI, Post W, Lin X, Redline S, Zhu X. Wang H, et al. Among authors: below je. Hum Mol Genet. 2016 Dec 1;25(23):5244-5253. doi: 10.1093/hmg/ddw324. Hum Mol Genet. 2016. PMID: 27798093 Free PMC article.
The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences.
Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Rio Deiros D, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, Kanthaswamy S, Kubisch HM, Liu D, Platt M, Smith DG, Sun B, Vallender EJ, Wang F, Wiseman RW, Chen R, Muzny DM, Gibbs RA, Yu F, Rogers J. Xue C, et al. Among authors: below je. Genome Res. 2016 Dec;26(12):1651-1662. doi: 10.1101/gr.204255.116. Epub 2016 Oct 17. Genome Res. 2016. PMID: 27934697 Free PMC article.
Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.
Parra EJ, Mazurek A, Gignoux CR, Sockell A, Agostino M, Morris AP, Petty LE, Hanis CL, Cox NJ, Valladares-Salgado A, Below JE, Cruz M. Parra EJ, et al. Among authors: below je. PLoS One. 2017 Feb 28;12(2):e0172880. doi: 10.1371/journal.pone.0172880. eCollection 2017. PLoS One. 2017. PMID: 28245265 Free PMC article.
Prevalence of spinocerebellar ataxia 36 in a US population.
Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Valera JM, et al. Among authors: below je. Neurol Genet. 2017 Jul 18;3(4):e174. doi: 10.1212/NXG.0000000000000174. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28761930 Free PMC article.
122 results