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Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Among authors: van duijn cm, van der lee sj, van rooij jg. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
PLD3 variants in population studies.
van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM. van der Lee SJ, et al. Among authors: van duijn cm, van den hout mc, van swieten jc, van rooij jg, van der flier wm, van ijcken wf. Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038. Nature. 2015. PMID: 25832410 Free PMC article. No abstract available.
Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations.
Amin N, Belonogova NM, Jovanova O, Brouwer RW, van Rooij JG, van den Hout MC, Svishcheva GR, Kraaij R, Zorkoltseva IV, Kirichenko AV, Hofman A, Uitterlinden AG, van IJcken WF, Tiemeier H, Axenovich TI, van Duijn CM. Amin N, et al. Among authors: van duijn cm, van den hout mc, van rooij jg, van ijcken wf. Biol Psychiatry. 2017 Apr 15;81(8):702-707. doi: 10.1016/j.biopsych.2016.08.008. Epub 2016 Aug 11. Biol Psychiatry. 2017. PMID: 27745872
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Holstege H, et al. Among authors: van duijn cm, van swieten jc, van der lee sj, van rooij jg, van der flier wm. Eur J Hum Genet. 2017 Aug;25(8):973-981. doi: 10.1038/ejhg.2017.87. Epub 2017 May 24. Eur J Hum Genet. 2017. PMID: 28537274 Free PMC article.
Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea.
van der Spek A, Luik AI, Kocevska D, Liu C, Brouwer RWW, van Rooij JGJ, van den Hout MCGN, Kraaij R, Hofman A, Uitterlinden AG, van IJcken WFJ, Gottlieb DJ, Tiemeier H, van Duijn CM, Amin N. van der Spek A, et al. Front Genet. 2017 Oct 18;8:151. doi: 10.3389/fgene.2017.00151. eCollection 2017. Front Genet. 2017. PMID: 29093733 Free PMC article.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI. Corominas J, et al. Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26. Ophthalmology. 2018. PMID: 29706360 Free PMC article.
Three VCP Mutations in Patients with Frontotemporal Dementia.
Wong TH, Pottier C, Hondius DC, Meeter LHH, van Rooij JGJ, Melhem S; Netherlands Brain bank; van Minkelen R, van Duijn CM, Rozemuller AJM, Seelaar H, Rademakers R, van Swieten JC. Wong TH, et al. J Alzheimers Dis. 2018;65(4):1139-1146. doi: 10.3233/JAD-180301. J Alzheimers Dis. 2018. PMID: 30103325
EIF2AK3 variants in Dutch patients with Alzheimer's disease.
Wong TH, van der Lee SJ, van Rooij JGJ, Meeter LHH, Frick P, Melhem S, Seelaar H, Ikram MA, Rozemuller AJ, Holstege H, Hulsman M, Uitterlinden A, Neumann M, Hoozemans JJM, van Duijn CM, Rademakers R, van Swieten JC. Wong TH, et al. Neurobiol Aging. 2019 Jan;73:229.e11-229.e18. doi: 10.1016/j.neurobiolaging.2018.08.016. Epub 2018 Aug 24. Neurobiol Aging. 2019. PMID: 30314817 Free article.
57 results