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Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.
Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC). Hu J, et al. Among authors: lubbe sj. Neurobiol Aging. 2022 Nov;119:136-138. doi: 10.1016/j.neurobiolaging.2022.07.012. Epub 2022 Jul 31. Neurobiol Aging. 2022. PMID: 36305379
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: lubbe sj. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.
Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K; CORGI Consortium; Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R. Tomlinson I, et al. Nat Genet. 2007 Aug;39(8):984-8. doi: 10.1038/ng2085. Epub 2007 Jul 8. Nat Genet. 2007. PMID: 17618284
National study of colorectal cancer genetics.
Penegar S, Wood W, Lubbe S, Chandler I, Broderick P, Papaemmanuil E, Sellick G, Gray R, Peto J, Houlston R. Penegar S, et al. Br J Cancer. 2007 Nov 5;97(9):1305-9. doi: 10.1038/sj.bjc.6603997. Epub 2007 Sep 25. Br J Cancer. 2007. PMID: 17895893 Free PMC article.
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O; CORGI Consortium; Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. Broderick P, et al. Nat Genet. 2007 Nov;39(11):1315-7. doi: 10.1038/ng.2007.18. Epub 2007 Oct 14. Nat Genet. 2007. PMID: 17934461
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W, Papaemmanuil E, Penegar S, Qureshi M; CORGI Consortium; Farrington S, Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R, Tomlinson I. Jaeger E, et al. Nat Genet. 2008 Jan;40(1):26-8. doi: 10.1038/ng.2007.41. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084292
90 results