Copy-number variation and association studies of human disease. CommentarySEBAT, Jonathan; MCCARROLL, Steven A; ALTSHULER, David M et al.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S3-S5, S37-S42 [9 p.], SUPArticle

Extending genome-wide association studies to copy-number variationMCCARROLL, Steven A.Human molecular genetics (Print). 2008, Vol 17, issn 0964-6906, R135-R142, NS2Article

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA SequenceGENOVESE, Giulio; KÄHLER, Anna K; PURCELL, Shaun M et al.The New England journal of medicine. 2014, Vol 371, Num 26, pp 2477-2487, issn 0028-4793, 11 p.Article

Structural haplotypes and recent evolution of the human 17q21.31 regionBOETTGER, Linda M; HANDSAKER, Robert E; ZODY, Michael C et al.Nature genetics. 2012, Vol 44, Num 8, pp 881-885, issn 1061-4036, 5 p.Article

Discovery and genotyping of genome structural polymorphism by sequencing on a population scaleHANDSAKER, Robert E; KORN, Joshua M; NEMESH, James et al.Nature genetics. 2011, Vol 43, Num 3, pp 269-276, issn 1061-4036, 8 p.Article

Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegansMURPHY, Coleen T; MCCARROLL, Steven A; BARGMANN, Cornella I et al.Nature (London). 2003, Vol 424, Num 6946, pp 277-284, issn 0028-0836, 8 p.Article

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and VariationKOREN, Amnon; POLAK, Paz; NEMESH, James et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1033-1040, issn 0002-9297, 8 p.Article

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genomeLOCKE, Devin P; SHARP, Andrew J; EICHLER, Evan E et al.American journal of human genetics. 2006, Vol 79, Num 2, pp 275-290, issn 0002-9297, 16 p.Article

Comparing genomic expression patterns across species identifies shared transcriptional profile in agingMCCARROLL, Steven A; MURPHY, Coleen T; ZOU, Sige et al.Nature genetics. 2004, Vol 36, Num 2, pp 197-204, issn 1061-4036, 8 p.Article

Genome-wide detection and characterization of positive selection in human populationsSABETI, Pardis C; VARILLY, Patrick; SCHAFFNER, Stephen F et al.Nature (London). 2007, Vol 449, Num 7164, pp 913-918, issn 0028-0836, 6 p.Article

Analysis of copy number variations at 15 schizophrenia-associated lociREES, Elliott; WALTERS, James T. R; O'DONOVAN, Michael C et al.British journal of psychiatry (Print). 2014, Vol 204, Num 2, pp 108-114, issn 0007-1250, 7 p.Article

The Penetrance of Copy Number Variations for Schizophrenia and Developmental DelayKIROV, George; REES, Elliott; MCCARROLL, Steven A et al.Biological psychiatry (1969). 2014, Vol 75, Num 5, pp 378-385, issn 0006-3223, 8 p.Article

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing DepthFROMER, Menachem; MORAN, Jennifer L; KIROV, George et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 597-607, issn 0002-9297, 11 p.Article

Common deletion polymorphisms in the human genomeMCCARROLL, Steven A; HADNOTT, Tracy N; ALTSHULER, David M et al.Nature genetics. 2006, Vol 38, Num 1, pp 86-92, issn 1061-4036, 7 p.Article

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsKORN, Joshua M; KURUVULA, Finny G; LEE, Charles et al.Nature genetics. 2008, Vol 40, Num 10, pp 1253-1260, issn 1061-4036, 8 p.Article

Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetesWINCKLER, Wendy; WEEDON, Michael N; HITMAN, Graham et al.Diabetes (New York, NY). 2007, Vol 56, Num 3, pp 685-693, issn 0012-1797, 9 p.Article

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African AmericansSIN LO, Ken; WILSON, James G; O'DONNELL, Christopher J et al.Human genetics. 2011, Vol 129, Num 3, pp 307-317, issn 0340-6717, 11 p.Article

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's diseaseMCCARROLL, Steven A; HUETT, Alan; DUERR, Richard H et al.Nature genetics. 2008, Vol 40, Num 9, pp 1107-1112, issn 1061-4036, 6 p.Article

zCall: a rare variant caller for array-based genotypingGOLDSTEIN, Jacqueline I; CRENSHAW, Andrew; SCHIZOPHRENIA CONSORTIUM, Swedish et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 19, pp 2543-2545, issn 1367-4803, 3 p.Article

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host diseaseMCCARROLL, Steven A; BRADNER, James E; WARREN, Edus H et al.Nature genetics. 2009, Vol 41, Num 12, pp 1341-1344, issn 1061-4036, 4 p.Article

Integrated detection and population-genetic analysis of SNPs and copy number variationMCCARROLL, Steven A; KURUVLLLA, Finny G; ELLIOTT, Amanda L et al.Nature genetics. 2008, Vol 40, Num 10, pp 1166-1174, issn 1061-4036, 9 p.Article

Finding the missing heritability of complex diseasesMANOLIO, Teri A; COLLINS, Francis S; CHO, Judy H et al.Nature (London). 2009, Vol 461, Num 7265, pp 747-753, issn 0028-0836, 7 p.Article

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of FallotGREENWAY, Steven C; PEREIRA, Alexandre C; GORHAM, Joshua M et al.Nature genetics. 2009, Vol 41, Num 8, pp 931-935, issn 1061-4036, 5 p.Article

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding GenesMACARTHUR, Daniel G; BALASUBRAMANIAN, Suganthi; ALBERS, Cornelis A et al.Science (Washington, D.C.). 2012, Vol 335, Num 6070, pp 823-828, issn 0036-8075, 6 p.Article

Mapping and sequencing of structural variation from eight human genomesKIDD, Jeffrey M; COOPER, Gregory M; HAUGEN, Eric et al.Nature genetics. 2009, Vol SEP, issn 1061-4036, S22-S30, SUPArticle