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Page 1
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. Among authors: van duijn cm, van swieten jc, van der lee sj, van rooij jgj. 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.
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. Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038. Nature. 2015. PMID: 25832410 Free PMC article. No abstract available.
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. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
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. 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. 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. Among authors: van duijn cm, van ijcken wfj, van rooij jgj, van den hout mcgn. Front Genet. 2017 Oct 18;8:151. doi: 10.3389/fgene.2017.00151. eCollection 2017. Front Genet. 2017. PMID: 29093733 Free PMC article.
A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.
Ghanbari M, Peters MJ, de Vries PS, Boer CG, van Rooij JGJ, Lee YC, Kumar V, Uitterlinden AG, Ikram MA, Wijmenga C, Ordovas JM, Smith CE, van Meurs JBJ, Erkeland SJ, Franco OH, Dehghan A. Ghanbari M, et al. Among authors: van meurs jbj, van rooij jgj. J Hum Genet. 2018 Apr;63(4):431-446. doi: 10.1038/s10038-017-0403-x. Epub 2018 Jan 30. J Hum Genet. 2018. PMID: 29382920 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. Among authors: van duijn cm, van rooij jgj. 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.
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimb… See abstract for full author list ➔ Pottier C, et al. Among authors: van blitterswijk m, van swieten jc, van rooij jgj, van deerlin vm. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
53 results