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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, Guo X, Lu Y, Li M, Jensen RA, Hu Y, Huo S, Lohman KK, Zhang W, Cook JP, Prins BP, Flannick J, Grarup N, Trubetskoy VV, Kravic J, Kim YJ, Rybin DV, Yaghootkar H, Müller-Nurasyid M, Meidtner K, Li-Gao R, Varga TV, Marten J, Li J, Smith AV, An P, Ligthart S, Gustafsson S, Malerba G, Demirkan A, Tajes JF, Steinthorsdottir V, Wuttke M, Lecoeur C, Preuss M, Bielak LF, Graff M, Highland HM, Justice AE, Liu DJ, Marouli E, Peloso GM, Warren HR; ExomeBP Consortium; MAGIC Consortium; GIANT Consortium; Afaq S, Afzal S, Ahlqvist E, Almgren P, Amin N, Bang LB, Bertoni AG, Bombieri C, Bork-Jensen J, Brandslund I, Brody JA, Burtt NP, Canouil M, Chen YI, Cho YS, Christensen C, Eastwood SV, Eckardt KU, Fischer K, Gambaro G, Giedraitis V, Grove ML, de Haan HG, Hackinger S, Hai Y, Han S, Tybjærg-Hansen A, Hivert MF, Isomaa B, Jäger S, Jørgensen ME, Jørgensen T, Käräjämäki A, Kim BJ, Kim SS, Koistinen HA, Kovacs P, Kriebel J, Kronenberg F, Läll K, Lange LA, Lee JJ, Lehne B, Li H, Lin KH, Linneberg A, Liu CT, Liu J, Loh M, Mägi R, Mamakou V, McKean-Cowdin R, Nadkarni G, Neville M, Nielsen SF, Ntalla I… See abstract for full author list ➔ Mahajan A, et al. Among authors: boehnke m. Nat Genet. 2018 Apr;50(4):559-571. doi: 10.1038/s41588-018-0084-1. Epub 2018 Apr 9. Nat Genet. 2018. PMID: 29632382 Free PMC article.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Eriksson M, et al. Among authors: boehnke m. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Nature. 2003. PMID: 12714972 Free PMC article.
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.
Silander K, Scott LJ, Valle TT, Mohlke KL, Stringham HM, Wiles KR, Duren WL, Doheny KF, Pugh EW, Chines P, Narisu N, White PP, Fingerlin TE, Jackson AU, Li C, Ghosh S, Magnuson VL, Colby K, Erdos MR, Hill JE, Hollstein P, Humphreys KM, Kasad RA, Lambert J, Lazaridis KN, Lin G, Morales-Mena A, Patzkowski K, Pfahl C, Porter R, Rha D, Segal L, Suh YD, Tovar J, Unni A, Welch C, Douglas JA, Epstein MP, Hauser ER, Hagopian W, Buchanan TA, Watanabe RM, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Silander K, et al. Among authors: boehnke m. Diabetes. 2004 Mar;53(3):821-9. doi: 10.2337/diabetes.53.3.821. Diabetes. 2004. PMID: 14988269
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes.
Silander K, Mohlke KL, Scott LJ, Peck EC, Hollstein P, Skol AD, Jackson AU, Deloukas P, Hunt S, Stavrides G, Chines PS, Erdos MR, Narisu N, Conneely KN, Li C, Fingerlin TE, Dhanjal SK, Valle TT, Bergman RN, Tuomilehto J, Watanabe RM, Boehnke M, Collins FS. Silander K, et al. Among authors: boehnke m. Diabetes. 2004 Apr;53(4):1141-9. doi: 10.2337/diabetes.53.4.1141. Diabetes. 2004. PMID: 15047633
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.
Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, Boehnke M, Collins FS. Mohlke KL, et al. Among authors: boehnke m. Hum Genet. 2005 Nov;118(2):245-54. doi: 10.1007/s00439-005-0046-4. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16142453 Free article.
596 results