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MLH1-93G > A is a risk factor for MSI colorectal cancer.
Whiffin N, Broderick P, Lubbe SJ, Pittman AM, Penegar S, Chandler I, Houlston RS. Whiffin N, et al. Among authors: lubbe sj. Carcinogenesis. 2011 Aug;32(8):1157-61. doi: 10.1093/carcin/bgr089. Epub 2011 May 11. Carcinogenesis. 2011. PMID: 21565826
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ, Vitale D, Otani DV, Lian MM, Heilbron K; 23andMe Research Team; Iwaki H, Lake J, Solsberg CW, Leonard H, Makarious MB, Tan EK, Singleton AB, Bandres-Ciga S, Noyce AJ; Global Parkinson’s Genetics Program (GP2); Blauwendraat C, Nalls MA, Foo JN, Mata I. Kim JJ, et al. Nat Genet. 2024 Jan;56(1):27-36. doi: 10.1038/s41588-023-01584-8. Epub 2023 Dec 28. Nat Genet. 2024. PMID: 38155330 Free PMC article.
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.
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
Bandres-Ciga S, Faghri F, Majounie E, Koretsky MJ, Kim J, Levine KS, Leonard H, Makarious MB, Iwaki H, Crea PW, Hernandez DG, Arepalli S, Billingsley K, Lohmann K, Klein C, Lubbe SJ, Jabbari E, Saffie-Awad P, Narendra D, Reyes-Palomares A, Quinn JP, Schulte C, Morris HR, Traynor BJ, Scholz SW, Houlden H, Hardy J, Dumanis S, Riley E, Blauwendraat C, Singleton A, Nalls M, Jeff J, Vitale D. Bandres-Ciga S, et al. Among authors: lubbe sj. medRxiv [Preprint]. 2023 Nov 14:2023.11.06.23298176. doi: 10.1101/2023.11.06.23298176. medRxiv. 2023. Update in: Mov Disord. 2024 Nov;39(11):2039-2048. doi: 10.1002/mds.29902 PMID: 37986980 Free PMC article. Updated. Preprint.
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.
96 results