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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
Fehrmann RS, Jansen RC, Veldink JH, Westra HJ, Arends D, Bonder MJ, Fu J, Deelen P, Groen HJ, Smolonska A, Weersma RK, Hofstra RM, Buurman WA, Rensen S, Wolfs MG, Platteel M, Zhernakova A, Elbers CC, Festen EM, Trynka G, Hofker MH, Saris CG, Ophoff RA, van den Berg LH, van Heel DA, Wijmenga C, Te Meerman GJ, Franke L. Fehrmann RS, et al. Among authors: saris cg. PLoS Genet. 2011 Aug;7(8):e1002197. doi: 10.1371/journal.pgen.1002197. Epub 2011 Aug 4. PLoS Genet. 2011. PMID: 21829388 Free PMC article.
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH. Diekstra FP, et al. Among authors: saris cg. PLoS One. 2012;7(4):e35333. doi: 10.1371/journal.pone.0035333. Epub 2012 Apr 11. PLoS One. 2012. PMID: 22509407 Free PMC article.
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: saris cg. Lancet Neurol. 2007 Oct;6(10):869-77. doi: 10.1016/S1474-4422(07)70222-3. Lancet Neurol. 2007. PMID: 17827064
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: saris cg. Nat Genet. 2008 Jan;40(1):29-31. doi: 10.1038/ng.2007.52. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084291
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: saris cg. Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4. Hum Mol Genet. 2010. PMID: 20685689
Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle.
Saris CG, Groen EJ, van Vught PW, van Es MA, Blauw HM, Veldink JH, van den Berg LH. Saris CG, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):190-8. doi: 10.3109/21678421.2012.749914. Epub 2013 Jan 8. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23298163
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH. van Doormaal PT, et al. Among authors: saris cg. Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19. Neurobiol Aging. 2014. PMID: 24838185 Free PMC article.
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