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Haplotype reference consortium panel: Practical implications of imputations with large reference panels.
Iglesias AI, van der Lee SJ, Bonnemaijer PWM, Höhn R, Nag A, Gharahkhani P, Khawaja AP, Broer L; International Glaucoma Genetics Consortium (IGGC); Foster PJ, Hammond CJ, Hysi PG, van Leeuwen EM, MacGregor S, Mackey DA, Mazur J, Nickels S, Uitterlinden AG, Klaver CCW, Amin N, van Duijn CM. Iglesias AI, et al. Among authors: hysi pg. Hum Mutat. 2017 Aug;38(8):1025-1032. doi: 10.1002/humu.23247. Epub 2017 Jun 9. Hum Mutat. 2017. PMID: 28493391 Free article.
NOD1 variation, immunoglobulin E and asthma.
Hysi P, Kabesch M, Moffatt MF, Schedel M, Carr D, Zhang Y, Boardman B, von Mutius E, Weiland SK, Leupold W, Fritzsch C, Klopp N, Musk AW, James A, Nunez G, Inohara N, Cookson WO. Hysi P, et al. Hum Mol Genet. 2005 Apr 1;14(7):935-41. doi: 10.1093/hmg/ddi087. Epub 2005 Feb 17. Hum Mol Genet. 2005. PMID: 15718249
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members. Timpson NJ, et al. Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Nat Commun. 2014. PMID: 25225788 Free PMC article.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE. Zarouchlioti C, et al. Among authors: hysi p. Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8. Am J Hum Genet. 2018. PMID: 29526280 Free PMC article.
254 results