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Page 1
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: grindedal em. Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29. Eur J Hum Genet. 2024. PMID: 38030917 Free PMC article.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W, Lam J, Taylor L, Salinas M, Feliubadaló L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Cook J, Rosario DJ, Buys SS, Conner T, Domchek S, Powers J, Ausems MGEM, Teixeira MR, Maia S, Izatt L, Schmutzler R, Rhiem K, Foulkes WD, Boshari T, Davidson R, Ruijs M, Helderman-van den Enden ATJM, Andrews L, Walker L, Snape K, Henderson A, Jobson I, Lindeman GJ, Liljegren A, Harris M, Adank MA, Kirk J, Taylor A, Susman R, Chen-Shtoyerman R, Pachter N, Spigelman A, Side L, Zgajnar J, Mora J, Brewer C, Gadea N, Brady AF, Gallagher D, van Os T, Donaldson A, Stefansdottir V, Barwell J, James PA, Murphy D, Friedman E, Nicolai N, Greenhalgh L, Obeid E, Murthy V, Copakova L, McGrath J, Teo SH, Strom S, Kast K, Leongamornlert DA, Chamberlain A, Pope J, Newlin AC, Aaronson N, Ardern-Jones A, Bangma C, Castro E, Dearnaley D, Eyfjord J, Falconer A, Foster CS, Gronberg H, Hamdy FC, Johannsson … See abstract for full author list ➔ Mikropoulos C, et al. Among authors: grindedal em. Br J Cancer. 2018 Mar 20;118(6):e17. doi: 10.1038/bjc.2018.11. Epub 2018 Mar 6. Br J Cancer. 2018. PMID: 29509747 Free PMC article.
Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis.
Yarmolinsky J, Bouras E, Constantinescu A, Burrows K, Bull CJ, Vincent EE, Martin RM, Dimopoulou O, Lewis SJ, Moreno V, Vujkovic M, Chang KM, Voight BF, Tsao PS, Gunter MJ, Hampe J, Pellatt AJ, Pharoah PDP, Schoen RE, Gallinger S, Jenkins MA, Pai RK; PRACTICAL consortium; VA Million Veteran Program; Gill D, Tsilidis KK. Yarmolinsky J, et al. Diabetologia. 2023 Aug;66(8):1481-1500. doi: 10.1007/s00125-023-05925-4. Epub 2023 May 12. Diabetologia. 2023. PMID: 37171501 Free PMC article.
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr J, Gatcombe L, Pinna M, Briggs S, Martin L, Jaeger E, Sharma-Oates A, East J, Leedham S, Arnold R, Johnstone E, Wang H, Kerr D, Kerr R, Maughan T, Kaplan R, Al-Tassan N, Palin K, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Buchanan DD, Win AK, Hopper J, Jenkins ME, Lindor NM, Newcomb PA, Gallinger S, Duggan D, Casey G, Hoffmann P, Nöthen MM, Jöckel KH, Easton DF, Pharoah PDP, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium; Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K, Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matošević P, Hofer P, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG. Law PJ, et al. Nat Commun. 2019 May 14;10(1):2154. doi: 10.1038/s41467-019-09775-w. Nat Commun. 2019. PMID: 31089142 Free PMC article.
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W, Haukanes BI, Grindedal EM, Aarset H, Stormorken A, Engebretsen LF, Jonsrud C, Bjørnevoll I, Andresen PA, Ariansen S, Lavik LA, Gilde B, Bowitz-Lothe IM, Maehle L, Møller P. Sjursen W, et al. Among authors: grindedal em. J Med Genet. 2010 Sep;47(9):579-85. doi: 10.1136/jmg.2010.077677. Epub 2010 Jun 28. J Med Genet. 2010. PMID: 20587412 Free PMC article.
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: grindedal em. Eur J Hum Genet. 2024 May;32(5):601-602. doi: 10.1038/s41431-023-01519-1. Eur J Hum Genet. 2024. PMID: 38172175 Free PMC article. No abstract available.
45 results