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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. Ioannidis NM, et al. Among authors: holzinger e. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666373 Free PMC article.
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
Simpson CL, Musolf AM, Li Q, Portas L, Murgia F, Cordero RY, Cordero JB, Moiz BA, Holzinger ER, Middlebrooks CD, Lewis DD, Bailey-Wilson JE, Stambolian D. Simpson CL, et al. Among authors: holzinger er. BMC Med Genet. 2019 Jan 31;20(1):27. doi: 10.1186/s12881-019-0752-8. BMC Med Genet. 2019. PMID: 30704416 Free PMC article.
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE. Holzinger ER, et al. Mol Genet Genomic Med. 2017 Aug 9;5(5):570-579. doi: 10.1002/mgg3.320. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944239 Free PMC article.
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.
Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I; FinnGen; Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, Pirinen M, Ripatti S, Koskela J. Ruotsalainen SE, et al. Eur J Hum Genet. 2021 Feb;29(2):309-324. doi: 10.1038/s41431-020-00730-8. Epub 2020 Oct 27. Eur J Hum Genet. 2021. PMID: 33110245 Free PMC article.
Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts.
De R, Verma SS, Holzinger E, Hall M, Burt A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Lange LA, Lanktree MB, Larson EB, North KE, Reiner AP, Tragante V, Tromp G, Wilson JG, Asselbergs FW, Drenos F, Moore JH, Ritchie MD, Keating B, Gilbert-Diamond D. De R, et al. Among authors: holzinger e. Hum Genet. 2017 Feb;136(2):165-178. doi: 10.1007/s00439-016-1738-7. Epub 2016 Nov 15. Hum Genet. 2017. PMID: 27848076
45 results