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Items: 7

1.

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.

Biomed Res Int. 2018 Jan 23;2018:9425843. doi: 10.1155/2018/9425843. eCollection 2018.

2.

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.

Hsu JSJ, So M, Tang CSM, Karim A, Porsch RM, Wong C, Yu M, Yeung F, Xia H, Zhang R, Cherny SS, Chung PHY, Wong KKY, Sham PC, Ngo ND, Li M, Tam PKH, Lui VCH, Garcia-Barcelo MM.

Hum Mol Genet. 2018 Jan 15;27(2):351-358. doi: 10.1093/hmg/ddx406.

PMID:
29177441
3.

Polygenic scores via penalized regression on summary statistics.

Mak TSH, Porsch RM, Choi SW, Zhou X, Sham PC.

Genet Epidemiol. 2017 Sep;41(6):469-480. doi: 10.1002/gepi.22050. Epub 2017 May 8.

PMID:
28480976
4.

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.

BMC Med Genet. 2016 Dec 22;17(1):98. doi: 10.1186/s12881-016-0359-2.

5.

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.

Am J Med Genet B Neuropsychiatr Genet. 2016 Jul;171(5):697-707. doi: 10.1002/ajmg.b.32420. Epub 2016 Jan 19.

PMID:
26786601
6.

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, Z├Âllner 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.

Nat Commun. 2015 Dec 22;6:10206. doi: 10.1038/ncomms10206.

7.

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-Barcel├│ MM.

Orphanet J Rare Dis. 2015 Feb 4;10:10. doi: 10.1186/s13023-015-0226-9.

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