Automating resequencing-based detection of insertion-deletion polymorphismsBHANGALE, Tushar R; STEPHENS, Matthew; NICKERSON, Deborah A et al.Nature genetics. 2006, Vol 38, Num 12, pp 1457-1462, issn 1061-4036, 6 p.Article

Mutational and selective effects on copy-number variants in the human genomeCOOPER, Gregory M; NICKERSON, Deborah A; EICHLER, Evan E et al.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S22-S29, SUPArticle

Estimating coverage and power for genetic association studies using near-complete variation dataBHANGALE, Tushar R; RIEDER, Mark J; NICKERSON, Deborah A et al.Nature genetics. 2008, Vol 40, Num 7, pp 841-843, issn 1061-4036, 3 p.Article

Massively parallel sequencing and rare diseaseNG, Sarah B; NICKERSON, Deborah A; BAMSHAD, Michael J et al.Human molecular genetics (Print). 2010, Vol 19, issn 0964-6906, R119-R124, NS2Article

Sequence variation and linkage disequilibrium in the human T-cell receptor β (TCRB) LocusSUBRAHMANYAN, Lakshman; EBERLE, Michael A; CLARK, Andrew G et al.American journal of human genetics. 2001, Vol 69, Num 2, pp 381-395, issn 0002-9297Article

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genesBHANGALE, Tushar R; RIEDER, Mark J; LIVINGSTON, Robert J et al.Human molecular genetics (Print). 2005, Vol 14, Num 1, pp 59-69, issn 0964-6906, 11 p.Article

Mapping complex disease loci in whole-genome association studies : Human genomics and medicineCARLSON, Christopher S; EBERLE, Michael A; KRUGLYAK, Leonid et al.Nature (London). 2004, Vol 429, Num 6990, pp 446-452, issn 0028-0836, 7 p.Article

Targeted interrogation of copy number variation using SCIMMkitZERR, Troy; COOPER, Gregory M; EICHLER, Evan E et al.Bioinformatics (Oxford. Print). 2010, Vol 26, Num 1, pp 120-122, issn 1367-4803, 3 p.Article

Systematic assessment of copy number variant detection via genome-wide SNP genotypingCOOPER, Gregory M; ZERR, Troy; KIDD, Jeffrey M et al.Nature genetics. 2008, Vol 40, Num 10, pp 1199-1203, issn 1061-4036, 5 p.Article

Automating sequence-based detection and genotyping of SNPs from diploid samplesSTEPHENS, Matthew; SLOAN, James S; ROBERTSON, P. D et al.Nature genetics. 2006, Vol 38, Num 3, pp 375-381, issn 1061-4036, 7 p.Article

The utility of single nucleotide polymorphisms in inferences of population historyBRUMFIELD, Robb T; BEERLI, Peter; NICKERSON, Deborah A et al.Trends in ecology & evolution (Amsterdam). 2003, Vol 18, Num 5, pp 249-256, issn 0169-5347, 8 p.Article

Efficient selection of tagging single-nucleotide polymorphisms in multiple populationsHOWIE, Bryan N; CARLSON, Christopher S; RIEDER, Mark J et al.Human genetics. 2006, Vol 120, Num 1, pp 58-68, issn 0340-6717, 11 p.Article

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager SyndromeBERNIER, Francois P; CALUSERIU, Oana; BYERS, Peter H et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 925-933, issn 0002-9297, 9 p.Article

Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA studyREINER, Alexander P; CARLSON, Christopher S; ZIV, Elad et al.Human genetics. 2007, Vol 121, Num 5, pp 565-575, issn 0340-6717, 11 p.Article

Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locusMACKELPRANG, Rachel; LIVINGSTON, Robert J; EBERLE, Michael A et al.Human genetics. 2006, Vol 119, Num 3, pp 255-266, issn 0340-6717, 12 p.Article

Genetic variation is associated with C-reactive protein levels in the third national health and nutrition examination surveyCRAWFORD, Dana C; SANDERS, Christopher L; XIAOTING QIN et al.Circulation (New York, N.Y.). 2006, Vol 114, Num 23, pp 2458-2465, issn 0009-7322, 8 p.Article

Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolismSTENGARD, Jari H; CLARK, Andrew G; WEISS, Kenneth M et al.American journal of human genetics. 2002, Vol 71, Num 3, pp 501-517, issn 0002-9297Article

Mitochondrial genetic variants and Alzheimer disease: A case-control study of the T4336C and G5460A variantsEDLAND, Steven D; TOBE, Vincent O; RIEDER, Mark J et al.Alzheimer disease and associated disorders. 2002, Vol 16, Num 1, pp 1-7, issn 0893-0341Article

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNA13 Causes Auriculocondylar SyndromeRIEDER, Mark J; GREEN, Glenn E; AMIEL, Jeanne et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 907-914, issn 0002-9297, 8 p.Article

Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in Adenylyl Cyclase 5CHEN, Ying-Zhang; MATSUSHITA, Mark M; RASKIND, Wendy H et al.Archives of neurology (Chicago). 2012, Vol 69, Num 5, pp 630-635, issn 0003-9942, 6 p.Article

Spectrum of MLL2 [ALR] Mutations in 110 Cases of Kabuki SyndromeHANNIBAL, Mark C; BUCKINGHAM, Kati J; COOK, Joseph et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1511-1516, issn 1552-4825, 6 p.Article

Genetic Ancestry in Lung-Function PredictionsKUMAR, Rajesh; SEIBOLD, Max A; CHOUDHRY, Shweta et al.The New England journal of medicine. 2010, Vol 363, Num 4, pp 321-330, issn 0028-4793, 10 p.Article

USF1 Gene Variants, Cardiovascular Risk, and Mortality in European Americans : Analysis of Two US Cohort StudiesREINER, Alexander P; CARLSON, Christopher S; JENNY, Nancy S et al.Arteriosclerosis, thrombosis, and vascular biology. 2007, Vol 27, Num 12, pp 2736-2742, issn 1079-5642, 7 p.Article

Allelic spectrum of the natural variation in CRPCRAWFORD, Dana C; QIAN YI; SMITH, Joshua D et al.Human genetics. 2006, Vol 119, Num 5, pp 496-504, issn 0340-6717, 9 p.Article

Direct detection of null alleles in SNP genotyping dataCARLSON, Christopher S; SMITH, Joshua D; STANAWAY, Ian B et al.Human molecular genetics (Print). 2006, Vol 15, Num 12, pp 1931-1937, issn 0964-6906, 7 p.Article