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Statistical power and significance testing in large-scale genetic studies.
Sham PC, Purcell SM. Sham PC, et al. Nat Rev Genet. 2014 May;15(5):335-46. doi: 10.1038/nrg3706. Nat Rev Genet. 2014. PMID: 24739678 Review.
GATES: a rapid and powerful gene-based association test using extended Simes procedure.
Li MX, Gui HS, Kwan JS, Sham PC. Li MX, et al. Among authors: sham pc. Am J Hum Genet. 2011 Mar 11;88(3):283-93. doi: 10.1016/j.ajhg.2011.01.019. Am J Hum Genet. 2011. PMID: 21397060 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. Among authors: sham pc. 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.
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
Liu W, Wong JK, He Q, Wong EH, Tang CS, Zhang R, So MT, Wong KK, Nicholls J, Cherny SS, Sham PC, Tam PK, Garcia-Barcelo MM, Xia H. Liu W, et al. Among authors: sham pc. BMC Med Genet. 2015 Jul 16;16:49. doi: 10.1186/s12881-015-0189-7. BMC Med Genet. 2015. PMID: 26179878 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: sham pc. 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.
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets.
Li MX, Yeung JM, Cherny SS, Sham PC. Li MX, et al. Among authors: sham pc. Hum Genet. 2012 May;131(5):747-56. doi: 10.1007/s00439-011-1118-2. Epub 2011 Dec 6. Hum Genet. 2012. PMID: 22143225 Free PMC article.
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Tang CS, Dattani S, So MT, Cherny SS, Tam PKH, Sham PC, Garcia-Barcelo MM. Tang CS, et al. Among authors: sham pc. Hum Genet. 2018 Jan;137(1):31-37. doi: 10.1007/s00439-017-1852-1. Epub 2017 Nov 11. Hum Genet. 2018. PMID: 29128982
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