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Year Number of Results
2012 1
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33 results

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Page 1
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 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. Among authors: musolf a. 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.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, Wedenoja J, Pärssinen O, Cheng CY, Saw SM, Stambolian D, Hysi PG, Khawaja AP, Vitart V, Hammond CJ, van Duijn CM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE. Musolf AM, et al. Commun Biol. 2023 Jan 3;6(1):6. doi: 10.1038/s42003-022-04323-7. Commun Biol. 2023. PMID: 36596879 Free PMC article.
A likely HOXC4 predisposition variant for Chiari malformations.
Brockmeyer DL, Cheshier SH, Stevens J, Facelli JC, Rowe K, Heiss JD, Musolf A, Viskochil DH, Allen-Brady KL, Cannon-Albright LA. Brockmeyer DL, et al. Among authors: musolf a. J Neurosurg. 2022 Nov 25;139(1):266-274. doi: 10.3171/2022.10.JNS22956. Print 2023 Jul 1. J Neurosurg. 2022. PMID: 36433874 Free PMC article.
IMI 2021 Yearly Digest.
Jong M, Jonas JB, Wolffsohn JS, Berntsen DA, Cho P, Clarkson-Townsend D, Flitcroft DI, Gifford KL, Haarman AEG, Pardue MT, Richdale K, Sankaridurg P, Tedja MS, Wildsoet CF, Bailey-Wilson JE, Guggenheim JA, Hammond CJ, Kaprio J, MacGregor S, Mackey DA, Musolf AM, Klaver CCW, Verhoeven VJM, Vitart V, Smith EL 3rd. Jong M, et al. Among authors: musolf am. Invest Ophthalmol Vis Sci. 2021 Apr 28;62(5):7. doi: 10.1167/iovs.62.5.7. Invest Ophthalmol Vis Sci. 2021. PMID: 33909031 Free PMC article. Review.
A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer.
Cannon-Albright LA, Teerlink CC, Stevens J, Facelli JC, Carr SR, Allen-Brady K, Puri S, Bailey-Wilson JE, Musolf AM; Genetic Epidemiology of Lung Cancer Consortium; Akerley W. Cannon-Albright LA, et al. Among authors: musolf am. Int J Cancer. 2023 Jul 15;153(2):364-372. doi: 10.1002/ijc.34510. Epub 2023 Apr 5. Int J Cancer. 2023. PMID: 36916144 Free PMC article.
Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.
Tideman JWL, Pärssinen O, Haarman AEG, Khawaja AP, Wedenoja J, Williams KM, Biino G, Ding X, Kähönen M, Lehtimäki T, Raitakari OT, Cheng CY, Jonas JB, Young TL, Bailey-Wilson JE, Rahi J, Williams C, He M, Mackey DA, Guggenheim JA; UK Biobank Eye and Vision Consortium and the Consortium for Refractive Error and Myopia (CREAM Consortium). Tideman JWL, et al. JAMA Ophthalmol. 2021 Jun 1;139(6):601-609. doi: 10.1001/jamaophthalmol.2021.0497. JAMA Ophthalmol. 2021. PMID: 33830181 Free PMC article.
33 results