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Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.
Forgetta V, Manousaki D, Istomine R, Ross S, Tessier MC, Marchand L, Li M, Qu HQ, Bradfield JP, Grant SFA, Hakonarson H; DCCT/EDIC Research Group; Paterson AD, Piccirillo C, Polychronakos C, Richards JB. Forgetta V, et al. Among authors: manousaki d. Diabetes. 2020 Apr;69(4):784-795. doi: 10.2337/db19-0831. Epub 2020 Jan 31. Diabetes. 2020. PMID: 32005708 Free PMC article.
Genetically decreased vitamin D and risk of Alzheimer disease.
Mokry LE, Ross S, Morris JA, Manousaki D, Forgetta V, Richards JB. Mokry LE, et al. Among authors: manousaki d. Neurology. 2016 Dec 13;87(24):2567-2574. doi: 10.1212/WNL.0000000000003430. Epub 2016 Nov 16. Neurology. 2016. PMID: 27856775 Free PMC article.
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.
Manousaki D, Dudding T, Haworth S, Hsu YH, Liu CT, Medina-Gómez C, Voortman T, van der Velde N, Melhus H, Robinson-Cohen C, Cousminer DL, Nethander M, Vandenput L, Noordam R, Forgetta V, Greenwood CMT, Biggs ML, Psaty BM, Rotter JI, Zemel BS, Mitchell JA, Taylor B, Lorentzon M, Karlsson M, Jaddoe VVW, Tiemeier H, Campos-Obando N, Franco OH, Utterlinden AG, Broer L, van Schoor NM, Ham AC, Ikram MA, Karasik D, de Mutsert R, Rosendaal FR, den Heijer M, Wang TJ, Lind L, Orwoll ES, Mook-Kanamori DO, Michaëlsson K, Kestenbaum B, Ohlsson C, Mellström D, de Groot LCPGM, Grant SFA, Kiel DP, Zillikens MC, Rivadeneira F, Sawcer S, Timpson NJ, Richards JB. Manousaki D, et al. Am J Hum Genet. 2017 Aug 3;101(2):227-238. doi: 10.1016/j.ajhg.2017.06.014. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757204 Free PMC article.
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.
Manousaki D, Dudding T, Haworth S, Hsu YH, Liu CT, Medina-Gómez C, Voortman T, van der Velde N, Melhus H, Robinson-Cohen C, Cousminer DL, Nethander M, Vandenput L, Noordam R, Forgetta V, Greenwood CMT, Biggs ML, Psaty BM, Rotter JI, Zemel BS, Mitchell JA, Taylor B, Lorentzon M, Karlsson M, Jaddoe VVW, Tiemeier H, Campos-Obando N, Franco OH, Utterlinden AG, Broer L, van Schoor NM, Ham AC, Ikram MA, Karasik D, de Mutsert R, Rosendaal FR, den Heijer M, Wang TJ, Lind L, Orwoll ES, Mook-Kanamori DO, Michaëlsson K, Kestenbaum B, Ohlsson C, Mellström D, de Groot LCPGM, Grant SFA, Kiel DP, Zillikens MC, Rivadeneira F, Sawcer S, Timpson NJ, Richards JB. Manousaki D, et al. Am J Hum Genet. 2018 Dec 6;103(6):1053. doi: 10.1016/j.ajhg.2018.11.010. Am J Hum Genet. 2018. PMID: 30526863 Free PMC article. No abstract available.
37 results