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Page 1
Evolutionary genetics of the human Rh blood group system.
Perry GH, Xue Y, Smith RS, Meyer WK, Calışkan M, Yanez-Cuna O, Lee AS, Gutiérrez-Arcelus M, Ober C, Hollox EJ, Tyler-Smith C, Lee C. Perry GH, et al. Among authors: caliskan m. Hum Genet. 2012 Jul;131(7):1205-16. doi: 10.1007/s00439-012-1147-5. Epub 2012 Feb 25. Hum Genet. 2012. PMID: 22367406 Free PMC article.
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Çalışkan M, et al. Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6. Hum Mol Genet. 2011. PMID: 21212097 Free PMC article.
Integrated analyses of gene expression and genetic association studies in a founder population.
Cusanovich DA, Caliskan M, Billstrand C, Michelini K, Chavarria C, De Leon S, Mitrano A, Lewellyn N, Elias JA, Chupp GL, Lang RM, Shah SJ, Decara JM, Gilad Y, Ober C. Cusanovich DA, et al. Among authors: caliskan m. Hum Mol Genet. 2016 May 15;25(10):2104-2112. doi: 10.1093/hmg/ddw061. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931462 Free PMC article.
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.
Çalışkan M, Manduchi E, Rao HS, Segert JA, Beltrame MH, Trizzino M, Park Y, Baker SW, Chesi A, Johnson ME, Hodge KM, Leonard ME, Loza B, Xin D, Berrido AM, Hand NJ, Bauer RC, Wells AD, Olthoff KM, Shaked A, Rader DJ, Grant SFA, Brown CD. Çalışkan M, et al. Am J Hum Genet. 2019 Jul 3;105(1):89-107. doi: 10.1016/j.ajhg.2019.05.010. Epub 2019 Jun 13. Am J Hum Genet. 2019. PMID: 31204013 Free PMC article.
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.
Abe K, Ohno Y, Sassa T, Taguchi R, Çalışkan M, Ober C, Kihara A. Abe K, et al. Among authors: caliskan m. J Biol Chem. 2013 Dec 20;288(51):36741-9. doi: 10.1074/jbc.M113.493221. Epub 2013 Nov 12. J Biol Chem. 2013. PMID: 24220030 Free PMC article.
464 results