The expanding scope of DNA sequencingSHENDURE, Jay; LIEBERMAN AIDEN, Erez.Nature biotechnology (Print). 2012, Vol 30, Num 11, pp 1084-1094, issn 1087-0156, 11 p.Article

Next-generation DNA sequencing : Next-generation sequencingSHENDURE, Jay; JI, Hanlee.Nature biotechnology (Print). 2008, Vol 26, Num 10, pp 1135-1145, issn 1087-0156, 11 p.Article

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic dataCOOPER, Gregory M; SHENDURE, Jay.Nature reviews. Genetics (Print). 2011, Vol 12, Num 9, pp 628-640, issn 1471-0056, 13 p.Article

Advanced sequencing technologies: Methods and goalsSHENDURE, Jay; MITRA, Robi D; VARMA, Chris et al.Nature reviews. Genetics (Print). 2004, Vol 5, Num 5, pp 335-344, issn 1471-0056, 10 p.Article

Single molecule profiling of alternative pre-mRNA splicingJUN ZHU; SHENDURE, Jay; MITRA, Robi D et al.Science (Washington, D.C.). 2003, Vol 301, Num 5634, pp 836-838, issn 0036-8075, 3 p.Article

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemiaRIOS, Jonathan; STEIN, Evan; SHENDURE, Jay et al.Human molecular genetics (Print). 2010, Vol 19, Num 22, pp 4313-4318, issn 0964-6906, 6 p.Article

High-resolution analysis of DNA regu latory elements by synthetic saturation mutagenesisPATWARDHAN, Rupali P; LEE, Choli; LITVIN, Oren et al.Nature biotechnology (Print). 2009, Vol 27, Num 12, pp 1173-1175, issn 1087-0156, 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

Identification of foreign gene sequences by transcript filtering against the human genomeWEBER, Griffin; SHENDURE, Jay; TANENBAUM, David M et al.Nature genetics. 2002, Vol 30, Num 2, pp 141-142, issn 1061-4036Article

Computational comparison of two draft sequences of the human genome : The human genomeAACH, John; BULYK, Martha L; CHURCH, George M et al.Nature (London). 2001, Vol 409, Num 6822, pp 856-859, issn 0028-0836Article

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

A three-dimensional model of the yeast genomeZHIJUN DUAN; ANDRONESCU, Mirela; SCHUTZ, Kevin et al.Nature (London). 2010, Vol 465, Num 7296, pp 363-367, issn 0028-0836, 5 p.Article

Accurate multiplex polony sequencing of an evolved bacterial genomeSHENDURE, Jay; PORRECA, Gregory J; REPPAS, Nikos B et al.Science (Washington, D.C.). 2005, Vol 309, Num 5741, pp 1728-1732, issn 0036-8075, 5 p.Article

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsO' ROAK, Brian J; VIVES, Laura; TURNER, Emily H et al.Nature (London). 2012, Vol 485, Num 7397, pp 246-250, issn 0028-0836, 5 p.Article

Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogasterXINXIAN DENG; HIATT, Joseph B; SHENDURE, Jay et al.Nature genetics. 2011, Vol 43, Num 12, pp 1179-1185, issn 1061-4036, 7 p.Article

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNG, Sarah B; BIGHAM, Abigail W; LEE, Choli et al.Nature genetics. 2010, Vol 42, Num 9, pp 790-793, issn 1061-4036, 4 p.Article

Targeted capture and massively parallel sequencing of 12 human exomesNG, Sarah B; TURNER, Emily H; BAMSHAD, Michael et al.Nature (London). 2009, Vol 461, Num 7261, pp 272-276, issn 0028-0836, 5 p.Article

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya DiseaseCECCHI, Alana C; DONGCHUAN GUO; BAMSHAD, Michael J et al.Stroke (1970). 2014, Vol 45, Num 11, pp 3200-3207, issn 0039-2499, 8 p.Article

Massively parallel functional dissection of mammalian enhancers in vivoPATWARDHAN, Rupali P; HIATT, Joseph B; AHITUV, Nadav et al.Nature biotechnology (Print). 2012, Vol 30, Num 3, pp 265-270, issn 1087-0156, 6 p.Article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsO'ROAK, Brian J; DERIZIOTIS, Pelagia; RIEDER, Mark J et al.Nature genetics. 2011, Vol 43, Num 6, pp 585-589, issn 1061-4036, 5 p.Article

Exome sequencing identifies the cause of a mendelian disorderNG, Sarah B; BUCKINGHAM, Kati J; SHENDURE, Jay et al.Nature genetics. 2010, Vol 42, Num 1, pp 30-35, issn 1061-4036, 6 p.Article

IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23BRKANAC, Zoran; SPENCER, David; SHENDURE, Jay et al.American journal of human genetics. 2009, Vol 84, Num 5, pp 692-697, issn 0002-9297, 6 p.Article

Somatic Mutations in Cerebral Cortical MalformationsJAMUAR, Saumya S; LAM, Anh-Thu N; SERVATTALAB, Sarah et al.The New England journal of medicine. 2014, Vol 371, Num 8, pp 733-743, issn 0028-4793, 11 p.Article

Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer SusceptibilityFITZGERALD, Liesel M; KUMAR, Akash; LI HSU et al.Cancer epidemiology, biomarkers & prevention. 2013, Vol 22, Num 9, pp 1520-1528, issn 1055-9965, 9 p.Article

Identification of novel HLA class II target epitopes for generation of donor-specific T regulatory cellsSTONE, Brad; RIECK, Mary; RAWLINGS, Crystal A et al.Clinical immunology (Orlando, Fla. Print). 2012, Vol 145, Num 2, pp 153-160, issn 1521-6616, 8 p.Article