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Page 1
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.
Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes.
Reus LM, Boltz T, Francia M, Bot M, Ramesh N, Koromina M, Pijnenburg YAL, den Braber A, van der Flier WM, Visser PJ, van der Lee SJ, Tijms BM, Teunissen CE, Loohuis LO, Ophoff RA. Reus LM, et al. Among authors: van der lee sj. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559021. doi: 10.1101/2023.09.26.559021. bioRxiv. 2023. PMID: 37808647 Free PMC article. Preprint.
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL, In 't Veld SGJG, Hanskamp I, van der Lee S, Dijkstra JIR, Hok-A-Hin YS, Blujdea ER, van Swieten JC, Irwin DJ, Chen-Plotkin A, Hu WT, Lemstra AW, Pijnenburg YAL, van der Flier WM, Del Campo M, Teunissen CE, Vermunt L. van der Ende EL, et al. Brain. 2023 Nov 2;146(11):4495-4507. doi: 10.1093/brain/awad213. Brain. 2023. PMID: 37348871 Free PMC article.
Multisample motif discovery and visualization for tandem repeats.
Zhang Y, Hulsman M, Salazar A, Tesi NO, Knoop L, van der Lee S, Wijesekera S, Krizova J, Kamsteeg EJ, Holstege H. Zhang Y, et al. Genome Res. 2024 Nov 13:gr.279278.124. doi: 10.1101/gr.279278.124. Online ahead of print. Genome Res. 2024. PMID: 39537359 Free article.
Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status.
Le Borgne J; EADB, GR@ACE, Degesco, EADI, GERAD, DemGene; Amouyel P, Andreassen O, Frikke-Schmidt R, Hiltunen M, Ingelsson M, Ramirez A, Rossi G, Ruiz A, Sanchez-Juan P, Sims R, Sleegers K, Tsolaki M, van der Lee SJ, Williams J, Lambert JC, Bellenguez C. Le Borgne J, et al. Among authors: van der lee sj. Alzheimers Dement. 2024 Mar;20(3):2282-2284. doi: 10.1002/alz.13550. Epub 2023 Dec 2. Alzheimers Dement. 2024. PMID: 38041824 Free PMC article. No abstract available.
The dystrophin gene and cognitive function in the general population.
Vojinovic D, Adams HH, van der Lee SJ, Ibrahim-Verbaas CA, Brouwer R, van den Hout MC, Oole E, van Rooij J, Uitterlinden A, Hofman A, van IJcken WF, Aartsma-Rus A, van Ommen GB, Ikram MA, van Duijn CM, Amin N. Vojinovic D, et al. Among authors: van duijn cm, van den hout mc, van ommen gb, van der lee sj, van ijcken wf, van rooij j. Eur J Hum Genet. 2015 Jun;23(6):837-43. doi: 10.1038/ejhg.2014.183. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227141 Free PMC article.
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A; NEIGHBORHOOD Consortium; Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RC, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CC, Craig JE, Young TL, Haines JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ. Springelkamp H, et al. Genet Epidemiol. 2015 Mar;39(3):207-16. doi: 10.1002/gepi.21886. Epub 2015 Jan 28. Genet Epidemiol. 2015. PMID: 25631615 Free PMC article.
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S. Springelkamp H, et al. Among authors: van koolwijk lm, van duijn cm, van der lee sj, van leeuwen em. Hum Mol Genet. 2015 May 1;24(9):2689-99. doi: 10.1093/hmg/ddv027. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637523 Free article.
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).
Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, Hofer E, Ibrahim-Verbaas CA, Kirin M, Lahti J, van der Lee SJ, Le Hellard S, Liu T, Marioni RE, Oldmeadow C, Postmus I, Smith AV, Smith JA, Thalamuthu A, Thomson R, Vitart V, Wang J, Yu L, Zgaga L, Zhao W, Boxall R, Harris SE, Hill WD, Liewald DC, Luciano M, Adams H, Ames D, Amin N, Amouyel P, Assareh AA, Au R, Becker JT, Beiser A, Berr C, Bertram L, Boerwinkle E, Buckley BM, Campbell H, Corley J, De Jager PL, Dufouil C, Eriksson JG, Espeseth T, Faul JD, Ford I; Generation Scotland; Gottesman RF, Griswold ME, Gudnason V, Harris TB, Heiss G, Hofman A, Holliday EG, Huffman J, Kardia SL, Kochan N, Knopman DS, Kwok JB, Lambert JC, Lee T, Li G, Li SC, Loitfelder M, Lopez OL, Lundervold AJ, Lundqvist A, Mather KA, Mirza SS, Nyberg L, Oostra BA, Palotie A, Papenberg G, Pattie A, Petrovic K, Polasek O, Psaty BM, Redmond P, Reppermund S, Rotter JI, Schmidt H, Schuur M, Schofield PW, Scott RJ, Steen VM, Stott DJ, van Swieten JC, Taylor KD, Trollor J, Trompet S, Uitterlinden AG, Weinstein G, Widen E, Windham BG, Jukema JW, Wright AF, Wright MJ, Yang Q, Amieva H, Attia JR, Bennett DA, Brodaty H, de Craen … See abstract for full author list ➔ Davies G, et al. Among authors: lee t, van swieten jc, van der lee sj, van duijn c. Mol Psychiatry. 2015 Feb;20(2):183-92. doi: 10.1038/mp.2014.188. Epub 2015 Feb 3. Mol Psychiatry. 2015. PMID: 25644384 Free PMC article.
139 results