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Page 1
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Hassanin E, Spier I, Bobbili DR, Aldisi R, Klinkhammer H, David F, Dueñas N, Hüneburg R, Perne C, Brunet J, Capella G, Nöthen MM, Forstner AJ, Mayr A, Krawitz P, May P, Aretz S, Maj C. Hassanin E, et al. Among authors: maj c. BMC Med Genomics. 2023 Mar 5;16(1):42. doi: 10.1186/s12920-023-01469-z. BMC Med Genomics. 2023. PMID: 36872334 Free PMC article.
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
Dueñas N, Klinkhammer H, Bonifaci N, Spier I, Mayr A, Hassanin E, Diez-Villanueva A, Moreno V, Pineda M, Maj C, Capellà G, Aretz S, Brunet J. Dueñas N, et al. Among authors: maj c. J Med Genet. 2023 Nov;60(11):1044-1051. doi: 10.1136/jmg-2023-109344. Epub 2023 Jun 15. J Med Genet. 2023. PMID: 37321833 Free article.
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
Mathey CM, Maj C, Eriksson N, Krebs K, Westmeier J, David FS, Koromina M, Scheer AB, Szabo N, Wedi B, Wieczorek D, Amann PM, Löffler H, Koch L, Schöffl C, Dickel H, Ganjuur N, Hornung T, Buhl T, Greve J, Wurpts G, Aygören-Pürsün E, Steffens M, Herms S, Heilmann-Heimbach S, Hoffmann P, Schmidt B, Mavarani L, Andresen T, Sørensen SB, Andersen V, Vogel U, Landén M, Bulik CM; Estonian Biobank Research Team; DBDS Genomic Consortium; Bygum A, Magnusson PKE, von Buchwald C, Hallberg P, Rye Ostrowski S, Sørensen E, Pedersen OB, Ullum H, Erikstrup C, Bundgaard H, Milani L, Rasmussen ER, Wadelius M, Ghouse J, Sachs B, Nöthen MM, Forstner AJ. Mathey CM, et al. Among authors: maj c. J Allergy Clin Immunol. 2024 Apr;153(4):1073-1082. doi: 10.1016/j.jaci.2023.11.921. Epub 2024 Jan 31. J Allergy Clin Immunol. 2024. PMID: 38300190 Free article.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: maj c. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, Khlevner J, De A, Farkouh-Karoleski C, Wagner AJ, Heydweiller A, Mueller AC, de Klein A, Warner BW, Maj C, Chung D, McCulley DJ, Schindel D, Potoka D, Fialkowski E, Schulz F, Kipfmuller F, Lim FY, Magielsen F, Mychaliska GB, Aspelund G, Reutter HM, Needelman H, Schnater JM, Fisher JC, Azarow K, Elfiky M, Nöthen MM, Danko ME, Li M, Kosiński P, Wijnen RMH, Cusick RA, Soffer SZ, Cochius-Den Otter SCM, Schaible T, Crombleholme T, Duron VP, Donahoe PK, Sun X, High FA, Bendixen C, Brosens E, Shen Y, Chung WK. Qiao L, et al. Among authors: maj c. Am J Hum Genet. 2024 Nov 7;111(11):2362-2381. doi: 10.1016/j.ajhg.2024.08.024. Epub 2024 Sep 26. Am J Hum Genet. 2024. PMID: 39332409
Genomic analyses of hair from Ludwig van Beethoven.
Begg TJA, Schmidt A, Kocher A, Larmuseau MHD, Runfeldt G, Maier PA, Wilson JD, Barquera R, Maj C, Szolek A, Sager M, Clayton S, Peltzer A, Hui R, Ronge J, Reiter E, Freund C, Burri M, Aron F, Tiliakou A, Osborn J, Behar DM, Boecker M, Brandt G, Cleynen I, Strassburg C, Prüfer K, Kühnert D, Meredith WR, Nöthen MM, Attenborough RD, Kivisild T, Krause J. Begg TJA, et al. Among authors: maj c. Curr Biol. 2023 Apr 24;33(8):1431-1447.e22. doi: 10.1016/j.cub.2023.02.041. Epub 2023 Mar 22. Curr Biol. 2023. PMID: 36958333 Free article.
98 results