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Page 1
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J. Dumont M, et al. Among authors: ramirez a. Cancers (Basel). 2022 Jul 11;14(14):3363. doi: 10.3390/cancers14143363. Cancers (Basel). 2022. PMID: 35884425 Free PMC article.
A one-degree-of-freedom test for supra-multiplicativity of SNP effects.
Herold C, Ramirez A, Drichel D, Lacour A, Vaitsiakhovich T, Nöthen MM, Jessen F, Maier W, Becker T. Herold C, et al. Among authors: ramirez a. PLoS One. 2013 Oct 30;8(10):e78038. doi: 10.1371/journal.pone.0078038. eCollection 2013. PLoS One. 2013. PMID: 24205078 Free PMC article.
Rare variant testing of imputed data: an analysis pipeline typified.
Drichel D, Herold C, Lacour A, Ramirez A, Jessen F, Maier W, Noethen MM, Leber M, Vaitsiakhovich T, Becker T. Drichel D, et al. Among authors: ramirez a. Hum Hered. 2014;78(3-4):164-78. doi: 10.1159/000368676. Epub 2014 Dec 10. Hum Hered. 2014. PMID: 25504234
Elevated HbA1c is associated with increased risk of incident dementia in primary care patients.
Ramirez A, Wolfsgruber S, Lange C, Kaduszkiewicz H, Weyerer S, Werle J, Pentzek M, Fuchs A, Riedel-Heller SG, Luck T, Mösch E, Bickel H, Wiese B, Prokein J, König HH, Brettschneider C, Breteler MM, Maier W, Jessen F, Scherer M; AgeCoDe Study Group. Ramirez A, et al. J Alzheimers Dis. 2015;44(4):1203-12. doi: 10.3233/JAD-141521. J Alzheimers Dis. 2015. PMID: 25524954
TREM2 rare variant p.R47H is not associated with Parkinson's disease.
Mengel D, Thelen M, Balzer-Geldsetzer M, Söling C, Bach JP, Schaeffer E, Herold C, Becker T, Liepelt I, Becker J, Riedel-Heller S, Scherer M, Jessen F, Maier W, Dodel R, Ramirez A. Mengel D, et al. Among authors: ramirez a. Parkinsonism Relat Disord. 2016 Feb;23:109-11. doi: 10.1016/j.parkreldis.2015.11.026. Epub 2015 Nov 25. Parkinsonism Relat Disord. 2016. PMID: 26651418
Alzheimer's disease risk variants modulate endophenotypes in mild cognitive impairment.
Louwersheimer E, Wolfsgruber S, Espinosa A, Lacour A, Heilmann-Heimbach S, Alegret M, Hernández I, Rosende-Roca M, Tárraga L, Boada M, Kornhuber J, Peters O, Frölich L, Hüll M, Rüther E, Wiltfang J, Scherer M, Riedel-Heller S, Jessen F, Nöthen MM, Maier W, Koene T, Scheltens P, Holstege H, Wagner M, Ruiz A, van der Flier WM, Becker T, Ramirez A. Louwersheimer E, et al. Among authors: ramirez a. Alzheimers Dement. 2016 Aug;12(8):872-81. doi: 10.1016/j.jalz.2016.01.006. Epub 2016 Feb 26. Alzheimers Dement. 2016. PMID: 26921674 Free article.
No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.
Bey K, Wolfsgruber S, Karaca I, Wagner H, Lardenoije R, Becker J, Milz E, Kornhuber J, Peters O, Frölich L, Hüll M, Rüther E, Wiltfang J, Riedel-Heller S, Scherer M, Jessen F, Maier W, van den Hove DL, Rutten BP, Wagner M, Ramirez A. Bey K, et al. Among authors: ramirez a. Epigenomics. 2016 May;8(5):593-8. doi: 10.2217/epi-2015-0014. Epub 2016 Apr 19. Epigenomics. 2016. PMID: 27092400
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E. Neidhardt G, et al. Among authors: ramirez a. JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592. JAMA Oncol. 2017. PMID: 28033443 Free PMC article.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: ramirez a. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
2,774 results