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Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA, Clark R, Cui J, Terry L, Patasova K, Haarman AEG, Musolf AM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE, Hysi PG, Williams C; CREAM Consortium; UK Biobank Eye Vision Consortium. Guggenheim JA, et al. Among authors: musolf am. Hum Mol Genet. 2022 Jun 4;31(11):1909-1919. doi: 10.1093/hmg/ddac004. Hum Mol Genet. 2022. PMID: 35022715 Free PMC article.
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. 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.
Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.
Musolf AM, Simpson CL, Moiz BA, Long KA, Portas L, Murgia F, Ciner EB, Stambolian D, Bailey-Wilson JE. Musolf AM, et al. Invest Ophthalmol Vis Sci. 2017 Jul 1;58(9):3547-3554. doi: 10.1167/iovs.16-21271. Invest Ophthalmol Vis Sci. 2017. PMID: 28715588 Free PMC article.
Myopia in Chinese families shows linkage to 10q26.13.
Musolf AM, Simpson CL, Long KA, Moiz BA, Lewis DD, Middlebrooks CD, Portas L, Murgia F, Ciner EB, Bailey-Wilson JE, Stambolian D. Musolf AM, et al. Mol Vis. 2018 Jan 14;24:29-42. eCollection 2018. Mol Vis. 2018. PMID: 29383007 Free PMC article.
Linear mixed models for association analysis of quantitative traits with next-generation sequencing data.
Chiu CY, Yuan F, Zhang BS, Yuan A, Li X, Fang HB, Lange K, Weeks DE, Wilson AF, Bailey-Wilson JE, Musolf AM, Stambolian D, Lakhal-Chaieb ML, Cook RJ, McMahon FJ, Amos CI, Xiong M, Fan R. Chiu CY, et al. Among authors: musolf am. Genet Epidemiol. 2019 Mar;43(2):189-206. doi: 10.1002/gepi.22177. Epub 2018 Dec 9. Genet Epidemiol. 2019. PMID: 30537345 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: musolf am. 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.
32 results