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Page 1
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, T… See abstract for full author list ➔ Goodrich JK, et al. Among authors: boehnke m. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
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.
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database.
Willer CJ, Scott LJ, Bonnycastle LL, Jackson AU, Chines P, Pruim R, Bark CW, Tsai YY, Pugh EW, Doheny KF, Kinnunen L, Mohlke KL, Valle TT, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Willer CJ, et al. Among authors: boehnke m. Genet Epidemiol. 2006 Feb;30(2):180-90. doi: 10.1002/gepi.20131. Genet Epidemiol. 2006. PMID: 16374835 Free article.
Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses.
Tsuchiya T, Schwarz PE, Bosque-Plata LD, Geoffrey Hayes M, Dina C, Froguel P, Wayne Towers G, Fischer S, Temelkova-Kurktschiev T, Rietzsch H, Graessler J, Vcelák J, Palyzová D, Selisko T, Bendlová B, Schulze J, Julius U, Hanefeld M, Weedon MN, Evans JC, Frayling TM, Hattersley AT, Orho-Melander M, Groop L, Malecki MT, Hansen T, Pedersen O, Fingerlin TE, Boehnke M, Hanis CL, Cox NJ, Bell GI. Tsuchiya T, et al. Among authors: boehnke m. Mol Genet Metab. 2006 Sep-Oct;89(1-2):174-84. doi: 10.1016/j.ymgme.2006.05.013. Epub 2006 Jul 11. Mol Genet Metab. 2006. PMID: 16837224
595 results