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Page 1
Polygenic scores via penalized regression on summary statistics.
Mak TSH, Porsch RM, Choi SW, Zhou X, Sham PC. Mak TSH, et al. Among authors: porsch rm. Genet Epidemiol. 2017 Sep;41(6):469-480. doi: 10.1002/gepi.22050. Epub 2017 May 8. Genet Epidemiol. 2017. PMID: 28480976 Free article.
Longitudinal heritability of childhood aggression.
Porsch RM, Middeldorp CM, Cherny SS, Krapohl E, van Beijsterveldt CE, Loukola A, Korhonen T, Pulkkinen L, Corley R, Rhee S, Kaprio J, Rose RR, Hewitt JK, Sham P, Plomin R, Boomsma DI, Bartels M. Porsch RM, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Jul;171(5):697-707. doi: 10.1002/ajmg.b.32420. Epub 2016 Jan 19. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26786601
UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.
Wisnumurti DA, Sribudiani Y, Porsch RM, Maskoen AM, Abdulhamied LI, Rahayuningsih SE, Asni EK, Sleutels F, Kockx CEM, van Ijcken WFJ, Sukadi A, Achmad TH. Wisnumurti DA, et al. Among authors: porsch rm. Biomed Res Int. 2018 Jan 23;2018:9425843. doi: 10.1155/2018/9425843. eCollection 2018. Biomed Res Int. 2018. PMID: 29607327 Free PMC article. Clinical Trial.
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.
Tang CS, Zhang H, Cheung CY, Xu M, Ho JC, Zhou W, Cherny SS, Zhang Y, Holmen O, Au KW, Yu H, Xu L, Jia J, Porsch RM, Sun L, Xu W, Zheng H, Wong LY, Mu Y, Dou J, Fong CH, Wang S, Hong X, Dong L, Liao Y, Wang J, Lam LS, Su X, Yan H, Yang ML, Chen J, Siu CW, Xie G, Woo YC, Wu Y, Tan KC, Hveem K, Cheung BM, Zöllner S, Xu A, Eugene Chen Y, Jiang CQ, Zhang Y, Lam TH, Ganesh SK, Huo Y, Sham PC, Lam KS, Willer CJ, Tse HF, Gao W. Tang CS, et al. Among authors: porsch rm. Nat Commun. 2015 Dec 22;6:10206. doi: 10.1038/ncomms10206. Nat Commun. 2015. PMID: 26690388 Free PMC article.
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM, Merello E, De Marco P, Cheng G, Rodriguez L, So M, Sham PC, Tam PK, Capra V, Cherny SS, Garcia-Barcelo MM, Campbell DD. Porsch RM, et al. BMC Med Genet. 2016 Dec 22;17(1):98. doi: 10.1186/s12881-016-0359-2. BMC Med Genet. 2016. PMID: 28007035 Free PMC article.
Cost effective assay choice for rare disease study designs.
Campbell DD, Porsch RM, Cherny SS, Capra V, Merello E, De Marco P, Sham PC, Garcia-Barceló MM. Campbell DD, et al. Among authors: porsch rm. Orphanet J Rare Dis. 2015 Feb 4;10:10. doi: 10.1186/s13023-015-0226-9. Orphanet J Rare Dis. 2015. PMID: 25648394 Free PMC article.