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104 results

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Page 1
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimäki T, Kähönen M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA; CREAM Consortium. Li Q, et al. Among authors: oexle k. Hum Genet. 2015 Feb;134(2):131-46. doi: 10.1007/s00439-014-1500-y. Epub 2014 Nov 4. Hum Genet. 2015. PMID: 25367360 Free PMC article.
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
Harrer P, Inderhees J, Zhao C, Schormair B, Tilch E, Gieger C, Peters A, Jöhren O, Fleming T, Nawroth PP, Berger K, Hermesdorf M, Winkelmann J, Schwaninger M, Oexle K. Harrer P, et al. Among authors: oexle k. EBioMedicine. 2024 Mar;101:105007. doi: 10.1016/j.ebiom.2024.105007. Epub 2024 Feb 13. EBioMedicine. 2024. PMID: 38354534 Free PMC article.
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
Epigenetic Association Analyses and Risk Prediction of RLS.
Harrer P, Mirza-Schreiber N, Mandel V, Roeber S, Stefani A, Naher S, Wagner M, Gieger C, Waldenberger M, Peters A, Högl B, Herms J, Schormair B, Zhao C, Winkelmann J, Oexle K. Harrer P, et al. Among authors: oexle k. Mov Disord. 2023 Aug;38(8):1410-1418. doi: 10.1002/mds.29440. Epub 2023 May 22. Mov Disord. 2023. PMID: 37212434
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.
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.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: oexle k. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
ExomeChip-based rare variant association study in restless legs syndrome.
Tilch E, Schormair B, Zhao C, Högl B, Stefani A, Berger K, Trenkwalder C, Bachmann CG, Hornyak M, Fietze I, Müller-Nurasyid M, Peters A, Herms S, Nöthen MM, Müller-Myhsok B, Oexle K, Winkelmann J. Tilch E, et al. Among authors: oexle k. Sleep Med. 2022 Jun;94:26-30. doi: 10.1016/j.sleep.2022.04.001. Epub 2022 Apr 9. Sleep Med. 2022. PMID: 35489115
104 results