Jay Shendure, M.D./Ph.D. - Publications

Affiliations: 
Genome Sciences University of Washington, Seattle, Seattle, WA 

293 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Chen W, McKenna A, Schreiber J, Haeussler M, Yin Y, Agarwal V, Noble WS, Shendure J. Massively parallel profiling and predictive modeling of the outcomes of CRISPR/Cas9-mediated double-strand break repair. Nucleic Acids Research. PMID 31165867 DOI: 10.1093/nar/gkz487  0.76
2019 Klein JC, Keith A, Rice SJ, Shepherd C, Agarwal V, Loughlin J, Shendure J. Functional testing of thousands of osteoarthritis-associated variants for regulatory activity. Nature Communications. 10: 2434. PMID 31164647 DOI: 10.1038/s41467-019-10439-y  0.32
2019 Shigaki D, Adato O, Adhikar AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DP, Schubach M, Xiong C, Yan Z, Boyle AP, ... ... Shendure J, et al. Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay. Human Mutation. PMID 31106481 DOI: 10.1002/humu.23797  0.88
2019 Kim S, Dunham MJ, Shendure J. A combination of transcription factors mediates inducible interchromosomal contacts. Elife. 8. PMID 31081754 DOI: 10.7554/eLife.42499  0.56
2019 Shendure J, Balasubramanian S, Church GM, Gilbert W, Rogers J, Schloss JA, Waterston RH. Publisher Correction: DNA sequencing at 40: past, present and future. Nature. PMID 30948799 DOI: 10.1038/s41586-019-1120-8  1
2019 Bertero A, Fields PA, Ramani V, Bonora G, Yardimci GG, Reinecke H, Pabon L, Noble WS, Shendure J, Murry CE. Dynamics of genome reorganization during human cardiogenesis reveal an RBM20-dependent splicing factory. Nature Communications. 10: 1538. PMID 30948719 DOI: 10.1038/s41467-019-09483-5  0.32
2019 Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH. Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation. Journal of Inherited Metabolic Disease. PMID 30945312 DOI: 10.1002/jimd.12091  0.88
2019 Shendure J, Findlay GM, Snyder MW. Genomic Medicine-Progress, Pitfalls, and Promise. Cell. 177: 45-57. PMID 30901547 DOI: 10.1016/j.cell.2019.02.003  0.76
2019 Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. 176: 1516. PMID 30849375 DOI: 10.1016/j.cell.2019.02.027  0.52
2019 Ramani V, Qiu R, Shendure J. High Sensitivity Profiling of Chromatin Structure by MNase-SSP. Cell Reports. 26: 2465-2476.e4. PMID 30811994 DOI: 10.1016/j.celrep.2019.02.007  0.64
2019 Cao J, Spielmann M, Qiu X, Huang X, Ibrahim DM, Hill AJ, Zhang F, Mundlos S, Christiansen L, Steemers FJ, Trapnell C, Shendure J. The single-cell transcriptional landscape of mammalian organogenesis. Nature. PMID 30787437 DOI: 10.1038/s41586-019-0969-x  0.48
2018 Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. PMID 30612741 DOI: 10.1016/j.cell.2018.11.029  0.52
2018 Swygert SG, Kim S, Wu X, Fu T, Hsieh TH, Rando OJ, Eisenman RN, Shendure J, McKnight JN, Tsukiyama T. Condensin-Dependent Chromatin Compaction Represses Transcription Globally during Quiescence. Molecular Cell. PMID 30595435 DOI: 10.1016/j.molcel.2018.11.020  0.4
2018 Sanchez C, Snyder MW, Tanos R, Shendure J, Thierry AR. New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis. Npj Genomic Medicine. 3: 31. PMID 30479833 DOI: 10.1038/s41525-018-0069-0  0.76
2018 Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Research. PMID 30371827 DOI: 10.1093/nar/gky1016  0.88
2018 Liu S, Huang S, Chen F, Zhao L, Yuan Y, Francis SS, Fang L, Li Z, Lin L, Liu R, Zhang Y, Xu H, Li S, Zhou Y, Davies RW, ... ... Shendure J, et al. Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History. Cell. 175: 347-359.e14. PMID 30290141 DOI: 10.1016/j.cell.2018.08.016  0.32
2018 Starita LM, Islam MM, Banerjee T, Adamovich AI, Gullingsrud J, Fields S, Shendure J, Parvin JD. A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. American Journal of Human Genetics. PMID 30219179 DOI: 10.1016/j.ajhg.2018.07.016  0.44
2018 Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J. Accurate classification of BRCA1 variants with saturation genome editing. Nature. PMID 30209399 DOI: 10.1038/s41586-018-0461-z  0.52
2018 Cao J, Cusanovich DA, Ramani V, Aghamirzaie D, Pliner HA, Hill AJ, Daza RM, McFaline-Figueroa JL, Packer JS, Christiansen L, Steemers FJ, Adey AC, Trapnell C, Shendure J. Joint profiling of chromatin accessibility and gene expression in thousands of single cells. Science (New York, N.Y.). PMID 30166440 DOI: 10.1126/science.aau0730  0.52
2018 Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ, et al. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. Jimd Reports. PMID 30117111 DOI: 10.1007/8904_2018_128  0.88
2018 Pliner HA, Packer JS, McFaline-Figueroa JL, Cusanovich DA, Daza RM, Aghamirzaie D, Srivatsan S, Qiu X, Jackson D, Minkina A, Adey AC, Steemers FJ, Shendure J, Trapnell C. Cicero Predicts cis-Regulatory DNA Interactions from Single-Cell Chromatin Accessibility Data. Molecular Cell. PMID 30078726 DOI: 10.1016/j.molcel.2018.06.044  0.52
2018 Cusanovich DA, Hill AJ, Aghamirzaie D, Daza RM, Pliner HA, Berletch JB, Filippova GN, Huang X, Christiansen L, DeWitt WS, Lee C, Regalado SG, Read DF, Steemers FJ, Disteche CM, ... ... Shendure J, et al. A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility. Cell. PMID 30078704 DOI: 10.1016/j.cell.2018.06.052  0.76
2018 Klein JC, Keith A, Agarwal V, Durham T, Shendure J. Functional characterization of enhancer evolution in the primate lineage. Genome Biology. 19: 99. PMID 30045748 DOI: 10.1186/s13059-018-1473-6  0.32
2018 McKenna A, Shendure J. FlashFry: a fast and flexible tool for large-scale CRISPR target design. Bmc Biology. 16: 74. PMID 29976198 DOI: 10.1186/s12915-018-0545-0  0.76
2018 Kronenberg ZN, Fiddes IT, Gordon D, Murali S, Cantsilieris S, Meyerson OS, Underwood JG, Nelson BJ, Chaisson MJP, Dougherty ML, Munson KM, Hastie AR, Diekhans M, Hormozdiari F, Lorusso N, ... ... Shendure J, et al. High-resolution comparative analysis of great ape genomes. Science (New York, N.Y.). 360. PMID 29880660 DOI: 10.1126/science.aar6343  0.64
2018 Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, et al. Multiplex assessment of protein variant abundance by massively parallel sequencing. Nature Genetics. PMID 29785012 DOI: 10.1038/s41588-018-0122-z  0.88
2018 Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. 28: 766.3. PMID 29717003 DOI: 10.1101/gr.237321.118  0.88
2018 Mulqueen RM, Pokholok D, Norberg SJ, Torkenczy KA, Fields AJ, Sun D, Sinnamon JR, Shendure J, Trapnell C, O'Roak BJ, Xia Z, Steemers FJ, Adey AC. Highly scalable generation of DNA methylation profiles in single cells. Nature Biotechnology. PMID 29644997 DOI: 10.1038/nbt.4112  0.6
2018 Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types. Nature Medicine. 24: 525. PMID 29634692 DOI: 10.1038/nm0418-525a  0.56
2018 Raj B, Wagner DE, McKenna A, Pandey S, Klein AM, Shendure J, Gagnon JA, Schier AF. Simultaneous single-cell profiling of lineages and cell types in the vertebrate brain. Nature Biotechnology. PMID 29608178 DOI: 10.1038/nbt.4103  0.76
2018 Cusanovich DA, Reddington JP, Garfield DA, Daza RM, Aghamirzaie D, Marco-Ferreres R, Pliner HA, Christiansen L, Qiu X, Steemers FJ, Trapnell C, Shendure J, Furlong EEM. The cis-regulatory dynamics of embryonic development at single-cell resolution. Nature. PMID 29539636 DOI: 10.1038/nature25981  0.52
2018 Hill AJ, McFaline-Figueroa JL, Starita LM, Gasperini MJ, Matreyek KA, Packer J, Jackson D, Shendure J, Trapnell C. On the design of CRISPR-based single-cell molecular screens. Nature Methods. PMID 29457792 DOI: 10.1038/nmeth.4604  0.44
2018 Ma W, Ay F, Lee C, Gulsoy G, Deng X, Cook S, Hesson J, Cavanaugh C, Ware CB, Krumm A, Shendure J, Blau CA, Disteche CM, Noble WS, Duan Z. Using DNase Hi-C techniques to map global and local three-dimensional genome architecture at high resolution. Methods (San Diego, Calif.). PMID 29382556 DOI: 10.1016/j.ymeth.2018.01.014  0.76
2018 Klein JC, Chen W, Gasperini M, Shendure J. Identifying novel enhancer elements with CRISPR-based screens. Acs Chemical Biology. PMID 29300083 DOI: 10.1021/acschembio.7b00778  0.52
2018 Weichenhan D, Wang Q, Adey A, Wolf S, Shendure J, Eils R, Plass C. Tagmentation-Based Library Preparation for Low DNA Input Whole Genome Bisulfite Sequencing. Methods in Molecular Biology (Clifton, N.J.). 1708: 105-122. PMID 29224141 DOI: 10.1007/978-1-4939-7481-8_6  0.76
2017 Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Advances. 1: 824-834. PMID 29296726 DOI: 10.1182/bloodadvances.2016002923  0.88
2017 Gray VE, Hause RJ, Luebeck J, Shendure J, Fowler DM. Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data. Cell Systems. PMID 29226803 DOI: 10.1016/j.cels.2017.11.003  0.48
2017 Liu J, Halloran JT, Bilmes JA, Daza RM, Lee C, Mahen EM, Prunkard D, Song C, Blau S, Dorschner MO, Gadi VK, Shendure J, Blau CA, Noble WS. Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies. Scientific Reports. 7: 16943. PMID 29208983 DOI: 10.1038/s41598-017-16813-4  0.76
2017 Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, ... ... Shendure J, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics. 101: 768-788. PMID 29100089 DOI: 10.1016/j.ajhg.2017.10.003  0.44
2017 Shendure J, Balasubramanian S, Church GM, Gilbert W, Rogers J, Schloss JA, Waterston RH. DNA sequencing at 40: past, present and future. Nature. PMID 29019985 DOI: 10.1038/nature24286  1
2017 Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types. Nature Medicine. 23: 1241. PMID 28985213 DOI: 10.1038/nm1017-1241a  0.56
2017 Heil CS, Burton JN, Liachko I, Friedrich A, Hanson NA, Morris CL, Schacherer J, Shendure J, Thomas JH, Dunham MJ. Identification of a novel interspecific hybrid yeast from a metagenomic spontaneously inoculated beer sample using Hi-C. Yeast (Chichester, England). PMID 28892574 DOI: 10.1002/yea.3280  0.64
2017 Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Variant Interpretation: Functional Assays to the Rescue. American Journal of Human Genetics. 101: 315-325. PMID 28886340 DOI: 10.1016/j.ajhg.2017.07.014  0.76
2017 Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, Ensslen M, Freeze HH. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. American Journal of Medical Genetics. Part A. PMID 28856833 DOI: 10.1002/ajmg.a.38412  0.88
2017 Cao J, Packer JS, Ramani V, Cusanovich DA, Huynh C, Daza R, Qiu X, Lee C, Furlan SN, Steemers FJ, Adey A, Waterston RH, Trapnell C, Shendure J. Comprehensive single-cell transcriptional profiling of a multicellular organism. Science (New York, N.Y.). 357: 661-667. PMID 28818938 DOI: 10.1126/science.aam8940  0.76
2017 Gasperini M, Findlay GM, McKenna A, Milbank JH, Lee C, Zhang MD, Cusanovich DA, Shendure J. CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. American Journal of Human Genetics. PMID 28712454 DOI: 10.1016/j.ajhg.2017.06.010  0.76
2017 Zhang F, Christiansen L, Thomas J, Pokholok D, Jackson R, Morrell N, Zhao Y, Wiley M, Welch E, Jaeger E, Granat A, Norberg SJ, Halpern A, C Rogert M, Ronaghi M, ... Shendure J, et al. Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube. Nature Biotechnology. PMID 28650462 DOI: 10.1038/nbt.3897  0.48
2017 Kim S, Liachko I, Brickner DG, Cook K, Noble WS, Brickner JH, Shendure J, Dunham MJ. The dynamic three-dimensional organization of the diploid yeast genome. Elife. 6. PMID 28537556 DOI: 10.7554/eLife.23623  0.56
2017 Roach DJ, Burton JN, Lee C, Stackhouse B, Butler-Wu SM, Cookson BT, Shendure J, Salipante SJ. Correction: A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota. Plos Genetics. 13: e1006724. PMID 28410416 DOI: 10.1371/journal.pgen.1006724  0.76
2017 Bickhart DM, Rosen BD, Koren S, Sayre BL, Hastie AR, Chan S, Lee J, Lam ET, Liachko I, Sullivan ST, Burton JN, Huson HJ, Nystrom JC, Kelley CM, Hutchison JL, ... ... Shendure J, et al. Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome. Nature Genetics. PMID 28263316 DOI: 10.1038/ng.3802  0.64
2017 Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JL, Freeze HH, et al. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. PMID 28216230 DOI: 10.1016/j.mito.2017.02.004  0.88
2017 Ramani V, Deng X, Qiu R, Gunderson KL, Steemers FJ, Disteche CM, Noble WS, Duan Z, Shendure J. Massively multiplex single-cell Hi-C. Nature Methods. PMID 28135255 DOI: 10.1038/nmeth.4155  0.64
2017 Cantsilieris S, Stessman HA, Shendure J, Eichler EE. Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs). Methods in Molecular Biology (Clifton, N.J.). 1492: 95-106. PMID 27822858 DOI: 10.1007/978-1-4939-6442-0_6  0.44
2016 Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, et al. Genome sequencing in a case of Niemann-Pick type C. Cold Spring Harbor Molecular Case Studies. 2: a001222. PMID 27900365 DOI: 10.1101/mcs.a001222  0.32
2016 Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. PMID 27831498 DOI: 10.1101/gr.212092.116  0.88
2016 Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Classification and characterization of microsatellite instability across 18 cancer types. Nature Medicine. PMID 27694933 DOI: 10.1038/nm.4191  0.56
2016 Ramani V, Cusanovich DA, Hause RJ, Ma W, Qiu R, Deng X, Blau CA, Disteche CM, Noble WS, Shendure J, Duan Z. Mapping 3D genome architecture through in situ DNase Hi-C. Nature Protocols. 11: 2104-2121. PMID 27685100 DOI: 10.1038/nprot.2016.126  0.64
2016 Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, ... ... Shendure J, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. Jci Insight. 1. PMID 27631024 DOI: 10.1172/jci.insight.87623  0.88
2016 Gasperini M, Starita L, Shendure J. The power of multiplexed functional analysis of genetic variants. Nature Protocols. 11: 1782-7. PMID 27583640 DOI: 10.1038/nprot.2016.135  0.52
2016 Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics. Part A. PMID 27480077 DOI: 10.1002/ajmg.a.37875  0.84
2016 Underhill HR, Kitzman JO, Hellwig S, Welker NC, Daza R, Baker DN, Gligorich KM, Rostomily RC, Bronner MP, Shendure J. Fragment Length of Circulating Tumor DNA. Plos Genetics. 12: e1006162. PMID 27428049 DOI: 10.1371/journal.pgen.1006162  0.76
2016 Shendure J, Fields S. Massively Parallel Genetics. Genetics. 203: 617-9. PMID 27270695 DOI: 10.1534/genetics.115.180562  0.84
2016 McKenna A, Findlay GM, Gagnon JA, Horwitz MS, Schier AF, Shendure J. Whole organism lineage tracing by combinatorial and cumulative genome editing. Science (New York, N.Y.). PMID 27229144 DOI: 10.1126/science.aaf7907  0.84
2016 Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, ... ... Shendure J, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Jama Neurology. PMID 27159400 DOI: 10.1001/jamaneurol.2016.0363  0.84
2016 Gordon D, Huddleston J, Chaisson MJ, Hill CM, Kronenberg ZN, Munson KM, Malig M, Raja A, Fiddes I, Hillier LW, Dunn C, Baker C, Armstrong J, Diekhans M, Paten B, ... Shendure J, et al. Long-read sequence assembly of the gorilla genome. Science (New York, N.Y.). 352: aae0344. PMID 27034376 DOI: 10.1126/science.aae0344  0.44
2016 Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, ... ... Shendure J, et al. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Human Genetics. PMID 27023906 DOI: 10.1007/s00439-016-1660-z  0.88
2016 Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Shendure J, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/humu.22983  0.84
2016 Kumar A, Coleman I, Morrissey C, Zhang X, True LD, Gulati R, Etzioni R, Bolouri H, Montgomery B, White T, Lucas JM, Brown LG, Dumpit RF, DeSarkar N, Higano C, ... ... Shendure J, et al. Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer. Nature Medicine. PMID 26928463 DOI: 10.1038/nm.4053  0.4
2016 Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RL, et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. Bmc Medical Genetics. 17: 13. PMID 26880286 DOI: 10.1186/s12881-016-0275-5  0.84
2016 Ramani V, Shendure J, Duan Z. Understanding Spatial Genome Organization: Methods and Insights. Genomics, Proteomics & Bioinformatics. PMID 26876719 DOI: 10.1016/j.gpb.2016.01.002  0.4
2016 Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. The Journal of Clinical Investigation. PMID 26854927 DOI: 10.1172/JCI83778  0.4
2016 Guo D, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera AL, Safi HJ, Leal SM, Bamshad MJ, ... Shendure J, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circulation Research. PMID 26838787 DOI: 10.1161/CIRCRESAHA.115.307130  0.4
2016 Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. Cell. 164: 57-68. PMID 26771485 DOI: 10.1016/j.cell.2015.11.050  0.84
2016 Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Ida Chen YD, Dupuis J, Fox CS, Gross MD, Smith JD, Heard-Costa N, ... ... Shendure J, et al. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. European Journal of Human Genetics : Ejhg. PMID 26757982 DOI: 10.1038/ejhg.2015.272  0.4
2016 Guo Dc, Regalado ES, Gong L, Duan X, Santos-Cortez RLP, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, ... Shendure J, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections Circulation Research. DOI: 10.1161/CIRCRESAHA.115.307130  0.4
2015 Snyder MW, Gammill HS, Shendure J. Copy-Number Variation and False Positive Results of Prenatal Screening. The New England Journal of Medicine. 373: 2585. PMID 26699182 DOI: 10.1056/NEJMc1507106  0.4
2015 Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, Nickerson DA, Shendure J, Bamshad MJ, et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 26695873 DOI: 10.1038/ejhg.2015.260  0.84
2015 Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X. Identification of genes escaping X inactivation by allelic expression analysis in a novel hybrid mouse model. Data in Brief. 5: 761-9. PMID 26693509 DOI: 10.1016/j.dib.2015.10.033  0.32
2015 Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A, Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, et al. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. Journal of the European Academy of Dermatology and Venereology : Jeadv. PMID 26691440 DOI: 10.1111/jdv.13540  0.4
2015 Phadnis N, Baker EP, Cooper JC, Frizzell KA, Hsieh E, de la Cruz AF, Shendure J, Kitzman JO, Malik HS. An essential cell cycle regulation gene causes hybrid inviability in Drosophila. Science (New York, N.Y.). 350: 1552-5. PMID 26680200 DOI: 10.1126/science.aac7504  0.4
2015 Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Nabhan MM, Doherty D, Hildebrandt F. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of Medical Genetics. PMID 26673778 DOI: 10.1136/jmedgenet-2015-103304  0.4
2015 Salipante SJ, Adey A, Thomas A, Lee C, Liu YJ, Kumar A, Lewis AP, Wu D, Fromm JR, Shendure J. Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma. Genes, Chromosomes & Cancer. PMID 26650888 DOI: 10.1002/gcc.22331  0.4
2015 Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, ... ... Shendure J, et al. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633546 DOI: 10.1038/gim.2015.147  0.88
2015 Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA, et al. Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections. Clinical Genetics. PMID 26621581 DOI: 10.1111/cge.12702  0.4
2015 Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, et al. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. International Journal of Dermatology. PMID 26578203 DOI: 10.1111/ijd.12950  0.84
2015 Klein JC, Lajoie MJ, Schwartz JJ, Strauch EM, Nelson J, Baker D, Shendure J. Multiplex pairwise assembly of array-derived DNA oligonucleotides. Nucleic Acids Research. PMID 26553805 DOI: 10.1093/nar/gkv1177  0.84
2015 Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, ... ... Shendure J, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet. Neurology. PMID 26520804 DOI: 10.1016/S1474-4422(15)00278-1  0.84
2015 Rosenberg AB, Patwardhan RP, Shendure J, Seelig G. Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences. Cell. 163: 698-711. PMID 26496609 DOI: 10.1016/j.cell.2015.09.054  0.4
2015 Shendure J, Akey JM. The origins, determinants, and consequences of human mutations. Science (New York, N.Y.). 349: 1478-83. PMID 26404824 DOI: 10.1126/science.aaa9119  0.84
2015 Jorth P, Staudinger BJ, Wu X, Hisert KB, Hayden H, Garudathri J, Harding CL, Radey MC, Rezayat A, Bautista G, Berrington WR, Goddard AF, Zheng C, Angermeyer A, Brittnacher MJ, ... ... Shendure J, et al. Regional Isolation Drives Bacterial Diversification within Cystic Fibrosis Lungs. Cell Host & Microbe. 18: 307-19. PMID 26299432 DOI: 10.1016/j.chom.2015.07.006  0.84
2015 Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation. PMID 26264460 DOI: 10.1002/humu.22856  0.84
2015 Deng X, Ma W, Ramani V, Hill A, Yang F, Ay F, Berletch JB, Blau CA, Shendure J, Duan Z, Noble WS, Disteche CM. Bipartite structure of the inactive mouse X chromosome. Genome Biology. 16: 152. PMID 26248554 DOI: 10.1186/s13059-015-0728-8  0.32
2015 Carlson KD, Sudmant PH, Press MO, Eichler EE, Shendure J, Queitsch C. Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. Genome Research. 25: 1244. PMID 26240161  0.56
2015 Ramani V, Qiu R, Shendure J. High-throughput determination of RNA structure by proximity ligation. Nature Biotechnology. 33: 980-4. PMID 26237516 DOI: 10.1038/nbt.3289  0.84
2015 Roach DJ, Burton JN, Lee C, Stackhouse B, Butler-Wu SM, Cookson BT, Shendure J, Salipante SJ. A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota. Plos Genetics. 11: e1005413. PMID 26230489 DOI: 10.1371/journal.pgen.1005413  0.76
2015 Kircher M, Shendure J. Running spell-check to identify regulatory variants. Nature Genetics. 47: 853-5. PMID 26220134 DOI: 10.1038/ng.3364  0.88
2015 Brennan G, Kitzman JO, Shendure J, Geballe AP. Experimental Evolution Identifies Vaccinia Virus Mutations in A24R and A35R That Antagonize the Protein Kinase R Pathway and Accompany Collapse of an Extragenic Gene Amplification. Journal of Virology. 89: 9986-97. PMID 26202237 DOI: 10.1128/JVI.01233-15  0.84
2015 Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, ... ... Shendure J, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. PMID 26167768 DOI: 10.1038/ncb3201  0.84
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Shendure J, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/j.ajhg.2015.06.009  0.88
2015 Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Journal of Medical Genetics. PMID 26160856 DOI: 10.1136/jmedgenet-2015-103255  0.84
2015 Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, ... ... Shendure J, et al. Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics. PMID 26121085 DOI: 10.1038/ng.3347  0.84
2015 Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J, Doherty D. KIAA0586 is Mutated in Joubert Syndrome. Human Mutation. PMID 26096313 DOI: 10.1002/humu.22821  0.84
2015 Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, ... ... Shendure J, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics. PMID 26092869 DOI: 10.1136/jmedgenet-2015-103087  0.84
2015 Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nature Communications. 6: 7092. PMID 26077881 DOI: 10.1038/ncomms8092  0.84
2015 Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-Ud-Din M, Smith JD, Shendure J, Bamshad MJ, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics. PMID 26063662 DOI: 10.1007/s00439-015-1571-4  0.84
2015 Kumar A, Ryan A, Kitzman JO, Wemmer N, Snyder MW, Sigurjonsson S, Lee C, Banjevic M, Zarutskie PW, Lewis AP, Shendure J, Rabinowitz M. Whole genome prediction for preimplantation genetic diagnosis. Genome Medicine. 7: 35. PMID 26019723 DOI: 10.1186/s13073-015-0160-4  0.84
2015 Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, ... ... Shendure J, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/j.ajhg.2015.04.004  0.84
2015 Cusanovich DA, Daza R, Adey A, Pliner HA, Christiansen L, Gunderson KL, Steemers FJ, Trapnell C, Shendure J. Epigenetics. Multiplex single-cell profiling of chromatin accessibility by combinatorial cellular indexing. Science (New York, N.Y.). 348: 910-4. PMID 25953818 DOI: 10.1126/science.aab1601  0.76
2015 Snyder MW, Adey A, Kitzman JO, Shendure J. Haplotype-resolved genome sequencing: experimental methods and applications. Nature Reviews. Genetics. 16: 344-58. PMID 25948246 DOI: 10.1038/nrg3903  0.84
2015 Varoquaux N, Liachko I, Ay F, Burton JN, Shendure J, Dunham MJ, Vert JP, Noble WS. Accurate identification of centromere locations in yeast genomes using Hi-C. Nucleic Acids Research. 43: 5331-9. PMID 25940625 DOI: 10.1093/nar/gkv424  0.84
2015 Weren RDA, Ligtenberg MJL, Kets CM, De Voer RM, Verwiel ETP, Spruijt L, Van Zelst-Stams WAG, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer Nature Genetics. 47: 668-671. PMID 25938944 DOI: 10.1038/ng.3287  0.84
2015 Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, ... ... Shendure J, et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Research. 25: 948-57. PMID 25917818 DOI: 10.1101/gr.186882.114  0.84
2015 Yang F, Deng X, Ma W, Berletch JB, Rabaia N, Wei G, Moore JM, Filippova GN, Xu J, Liu Y, Noble WS, Shendure J, Disteche CM. The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation. Genome Biology. 16: 52. PMID 25887447 DOI: 10.1186/s13059-015-0618-0  0.84
2015 Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, Eichler EE, Shendure J, Gammill HS. Copy-number variation and false positive prenatal aneuploidy screening results. The New England Journal of Medicine. 372: 1639-45. PMID 25830323 DOI: 10.1056/NEJMoa1408408  0.84
2015 Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. Genetics. 200: 413-22. PMID 25823446 DOI: 10.1534/genetics.115.175802  0.84
2015 Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X. Escape from X inactivation varies in mouse tissues. Plos Genetics. 11: e1005079. PMID 25785854 DOI: 10.1371/journal.pgen.1005079  0.84
2015 Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : a Journal of Neurology. 138: 1613-28. PMID 25722288 DOI: 10.1093/brain/awv045  0.76
2015 Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, ... ... Shendure J, et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics. 96: 462-73. PMID 25683120 DOI: 10.1016/j.ajhg.2015.01.003  0.84
2015 Carlson KD, Sudmant PH, Press MO, Eichler EE, Shendure J, Queitsch C. MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. Genome Research. 25: 750-61. PMID 25659649 DOI: 10.1101/gr.182212.114  0.84
2015 Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, ... ... Shendure J, et al. Exome sequencing in suspected monogenic dyslipidemias. Circulation. Cardiovascular Genetics. 8: 343-50. PMID 25632026 DOI: 10.1161/CIRCGENETICS.114.000776  0.84
2015 D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Annals of Neurology. 77: 720-5. PMID 25599672 DOI: 10.1002/ana.24357  0.84
2015 Kitzman JO, Starita LM, Lo RS, Fields S, Shendure J. Massively parallel single-amino-acid mutagenesis. Nature Methods. 12: 203-6, 4 p following. PMID 25559584 DOI: 10.1038/nmeth.3223  0.76
2015 Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, ... ... Shendure J, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. American Journal of Human Genetics. 96: 170-7. PMID 25557781 DOI: 10.1016/j.ajhg.2014.11.015  0.84
2015 Ma W, Ay F, Lee C, Gulsoy G, Deng X, Cook S, Hesson J, Cavanaugh C, Ware CB, Krumm A, Shendure J, Blau CA, Disteche CM, Noble WS, Duan Z. Fine-scale chromatin interaction maps reveal the cis-regulatory landscape of human lincRNA genes. Nature Methods. 12: 71-8. PMID 25437436 DOI: 10.1038/nmeth.3205  0.84
2015 Salipante SJ, Roach DJ, Kitzman JO, Snyder MW, Stackhouse B, Butler-Wu SM, Lee C, Cookson BT, Shendure J. Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains. Genome Research. 25: 119-28. PMID 25373147 DOI: 10.1101/gr.180190.114  0.84
2015 Roach DJ, Burton JN, Lee C, Stackhouse B, Butler-Wu SM, Cookson BT, Shendure J, Salipante SJ. A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota Plos Genetics. 11. DOI: 10.1371/journal.pgen.1005413  0.84
2015 Deng X, Ma W, Ramani V, Hill A, Yang F, Ay F, Berletch JB, Blau CA, Shendure J, Duan Z, Noble WS, Disteche CM. Bipartite structure of the inactive mouse X chromosome Genome Biology. 16. DOI: 10.1186/s13059-015-0728-8  0.84
2015 Cusanovich DA, Daza R, Adey A, Pliner HA, Christiansen L, Gunderson KL, Steemers FJ, Trapnell C, Shendure J. Multiplex single-cell profiling of chromatin accessibility by combinatorial cellular indexing Science. 348: 910-914. DOI: 10.1126/science.aab1601  0.84
2015 Kitzman JO, Starita LM, Lo RS, Fields S, Shendure J. Massively parallel single-amino-acid mutagenesis Nature Methods. 12: 203-206. DOI: 10.1038/nmeth.3223  0.84
2015 Kircher M, Shendure J. Running spell-check to identify regulatory variants Nature Genetics. 47: 853-855. DOI: 10.1038/ng.3364  0.84
2015 Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X. Identification of genes escaping X inactivation by allelic expression analysis in a novel hybrid mouse model Data in Brief. 5: 761-769. DOI: 10.1016/j.dib.2015.10.033  0.84
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Shendure J, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009  0.84
2014 Kumar A, Boyle EA, Tokita M, Mikheev AM, Sanger MC, Girard E, Silber JR, Gonzalez-Cuyar LF, Hiatt JB, Adey A, Lee C, Kitzman JO, Born DE, Silbergeld DL, Olson JM, ... ... Shendure J, et al. Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes. Genome Biology. 15: 530. PMID 25608559 DOI: 10.1186/s13059-014-0530-z  0.84
2014 Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, ... ... Shendure J, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/ejhg.2014.266  0.84
2014 O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications. 5: 5595. PMID 25418537 DOI: 10.1038/ncomms6595  0.84
2014 Hause RJ, Shendure J. Genetic variation meets replication origins. Cell. 159: 973-4. PMID 25416936 DOI: 10.1016/j.cell.2014.11.009  0.84
2014 Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, ... ... Shendure J, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/nature13908  0.84
2014 Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. Plos Genetics. 10: e1004592. PMID 25340400 DOI: 10.1371/journal.pgen.1004592  0.84
2014 Adey A, Kitzman JO, Burton JN, Daza R, Kumar A, Christiansen L, Ronaghi M, Amini S, Gunderson KL, Steemers FJ, Shendure J. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity. Genome Research. 24: 2041-9. PMID 25327137 DOI: 10.1101/gr.178319.114  0.76
2014 Amini S, Pushkarev D, Christiansen L, Kostem E, Royce T, Turk C, Pignatelli N, Adey A, Kitzman JO, Vijayan K, Ronaghi M, Shendure J, Gunderson KL, Steemers FJ. Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing. Nature Genetics. 46: 1343-9. PMID 25326703 DOI: 10.1038/ng.3119  0.84
2014 Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke; a Journal of Cerebral Circulation. 45: 3200-7. PMID 25278557 DOI: 10.1161/STROKEAHA.114.006244  0.84
2014 Pritchard CC, Morrissey C, Kumar A, Zhang X, Smith C, Coleman I, Salipante SJ, Milbank J, Yu M, Grady WM, Tait JF, Corey E, Vessella RL, Walsh T, Shendure J, et al. Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. Nature Communications. 5: 4988. PMID 25255306 DOI: 10.1038/ncomms5988  0.84
2014 Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications. 5: 4954. PMID 25232744 DOI: 10.1038/ncomms5954  0.84
2014 Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, ... ... Shendure J, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 46: 1063-71. PMID 25217958 DOI: 10.1038/ng.3092  0.84
2014 Kumar A, Dougherty M, Findlay GM, Geisheker M, Klein J, Lazar J, Machkovech H, Resnick J, Resnick R, Salter AI, Talebi-Liasi F, Arakawa C, Baudin J, Bogaard A, Salesky R, ... ... Shendure J, et al. Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course. Plos One. 9: e106744. PMID 25192356 DOI: 10.1371/journal.pone.0106744  0.84
2014 Findlay GM, Boyle EA, Hause RJ, Klein JC, Shendure J. Saturation editing of genomic regions by multiplex homology-directed repair. Nature. 513: 120-3. PMID 25141179 DOI: 10.1038/nature13695  0.84
2014 Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, ... ... Shendure J, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/NEJMoa1314432  0.84
2014 Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, ... ... Shendure J, et al. Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396. PMID 25116239 DOI: 10.1371/journal.pone.0104396  0.84
2014 Schwartz JJ, Roach DJ, Thomas JH, Shendure J. Primate evolution of the recombination regulator PRDM9. Nature Communications. 5: 4370. PMID 25001002 DOI: 10.1038/ncomms5370  0.84
2014 Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, ... ... Shendure J, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 158: 263-76. PMID 24998929 DOI: 10.1016/j.cell.2014.06.017  0.84
2014 Laszlo AH, Derrington IM, Ross BC, Brinkerhoff H, Adey A, Nova IC, Craig JM, Langford KW, Samson JM, Daza R, Doering K, Shendure J, Gundlach JH. Decoding long nanopore sequencing reads of natural DNA. Nature Biotechnology. 32: 829-33. PMID 24964173 DOI: 10.1038/nbt.2950  0.76
2014 Nuttle X, Itsara A, Shendure J, Eichler EE. Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing. Nature Protocols. 9: 1496-513. PMID 24874815 DOI: 10.1038/nprot.2014.096  0.84
2014 Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J. MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing. Bioinformatics (Oxford, England). 30: 2670-2. PMID 24867941 DOI: 10.1093/bioinformatics/btu353  0.84
2014 Burton JN, Liachko I, Dunham MJ, Shendure J. Species-level deconvolution of metagenome assemblies with Hi-C-based contact probability maps. G3 (Bethesda, Md.). 4: 1339-46. PMID 24855317 DOI: 10.1534/g3.114.011825  0.64
2014 SenGupta DJ, Cummings LA, Hoogestraat DR, Butler-Wu SM, Shendure J, Cookson BT, Salipante SJ. Whole-genome sequencing for high-resolution investigation of methicillin-resistant Staphylococcus aureus epidemiology and genome plasticity. Journal of Clinical Microbiology. 52: 2787-96. PMID 24850346 DOI: 10.1128/JCM.00759-14  0.56
2014 MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/nature13127  0.84
2014 Salipante SJ, Fromm JR, Shendure J, Wood BL, Wu D. Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. 27: 1438-46. PMID 24743218 DOI: 10.1038/modpathol.2014.57  0.56
2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Shendure J, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/j.ajhg.2014.03.015  0.84
2014 Shinsky SA, Hu M, Vought VE, Ng SB, Bamshad MJ, Shendure J, Cosgrove MS. A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes. Journal of Molecular Biology. 426: 2283-99. PMID 24680668 DOI: 10.1016/j.jmb.2014.03.011  0.84
2014 Brennan G, Kitzman JO, Rothenburg S, Shendure J, Geballe AP. Adaptive Gene Amplification As an Intermediate Step in the Expansion of Virus Host Range Plos Pathogens. 10. PMID 24626510 DOI: 10.1371/journal.ppat.1004002  0.84
2014 Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, ... ... Shendure J, et al. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 82: 1245-53. PMID 24623842 DOI: 10.1212/WNL.0000000000000291  0.84
2014 Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, ... ... Shendure J, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine. 189: 707-17. PMID 24568568 DOI: 10.1164/rccm.201311-2047OC  0.84
2014 Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics. 46: 310-5. PMID 24487276 DOI: 10.1038/ng.2892  0.84
2014 Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Human Molecular Genetics. 23: 3289-98. PMID 24482543 DOI: 10.1093/hmg/ddu042  0.84
2014 Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics. 94: 144-52. PMID 24387994 DOI: 10.1016/j.ajhg.2013.12.004  0.84
2014 Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends in Neurosciences. 37: 95-105. PMID 24387789 DOI: 10.1016/j.tins.2013.11.005  0.84
2014 Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, ... ... Shendure J, et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. 94: 62-72. PMID 24360808 DOI: 10.1016/j.ajhg.2013.11.019  0.84
2014 He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. American Journal of Human Genetics. 94: 33-46. PMID 24360806 DOI: 10.1016/j.ajhg.2013.11.021  0.84
2014 Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, ... ... Shendure J, et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 505: 43-9. PMID 24352235 DOI: 10.1038/nature12886  0.84
2014 Boissel S, Jarjour J, Astrakhan A, Adey A, Gouble A, Duchateau P, Shendure J, Stoddard BL, Certo MT, Baker D, Scharenberg AM. MegaTALs: A rare-cleaving nuclease architecture for therapeutic genome engineering Nucleic Acids Research. 42: 2591-2601. PMID 24285304 DOI: 10.1093/nar/gkt1224  0.84
2014 Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Human Molecular Genetics. 23: 1602-5. PMID 24218363 DOI: 10.1093/hmg/ddt550  0.84
2014 Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends in Cardiovascular Medicine. 24: 53-60. PMID 23953976 DOI: 10.1016/j.tcm.2013.06.004  0.84
2014 Taylor SD, Ericson NG, Burton JN, Prolla TA, Silber JR, Shendure J, Bielas JH. Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain Aging Cell. 13: 29-38. PMID 23911137 DOI: 10.1111/acel.12146  0.84
2014 Shendure J. Life after genetics Genome Medicine. 6. DOI: 10.1186/s13073-014-0086-2  0.84
2014 SenGupta DJ, Cummings LA, Hoogestraat DR, Butler-Wu SM, Shendure J, Cookson BT, Salipante SJ. Whole-genome sequencing for high-resolution investigation of methicillin-resistant Staphylococcus aureus epidemiology and genome plasticity Journal of Clinical Microbiology. 52: 2787-2796. DOI: 10.1128/JCM.00759-14  0.84
2014 Adey A, Kitzman JO, Burton JN, Daza R, Kumar A, Christiansen L, Ronaghi M, Amini S, Gunderson KL, Steemers FJ, Shendure J. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity Genome Research. 24: 2041-2049. DOI: 10.1101/gr.178319.114  0.84
2014 Laszlo AH, Derrington IM, Ross BC, Brinkerhoff H, Adey A, Nova IC, Craig JM, Langford KW, Samson JM, Daza R, Doering K, Shendure J, Gundlach JH. Decoding long nanopore sequencing reads of natural DNA Nature Biotechnology. 32: 829-833. DOI: 10.1038/nbt.2950  0.84
2014 Salipante SJ, Fromm JR, Shendure J, Wood BL, Wu D. Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing Modern Pathology. 27: 1438-1446. DOI: 10.1038/modpathol.2014.57  0.84
2013 Burton JN, Adey A, Patwardhan RP, Qiu R, Kitzman JO, Shendure J. Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions Nature Biotechnology. 31: 1119-1125. PMID 24185095 DOI: 10.1038/nbt.2727  0.84
2013 Wang Q, Gu L, Adey A, Radlwimmer B, Wang W, Hovestadt V, Bähr M, Wolf S, Shendure J, Eils R, Plass C, Weichenhan D. Tagmentation-based whole-genome bisulfite sequencing. Nature Protocols. 8: 2022-32. PMID 24071908 DOI: 10.1038/nprot.2013.118  0.84
2013 Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, ... ... Shendure J, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics. 93: 711-20. PMID 24055112 DOI: 10.1016/j.ajhg.2013.07.025  0.84
2013 Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, ... ... Shendure J, et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics. 45: 1073-6. PMID 23933818 DOI: 10.1038/ng.2727  0.84
2013 Laurie MT, Bertout JA, Taylor SD, Burton JN, Shendure JA, Bielas JH. Simultaneous digital quantification and fluorescence-based size characterization of massively parallel sequencing libraries Biotechniques. 55: 61-67. PMID 23931593 DOI: 10.2144/000114063  0.84
2013 Adey A, Burton JN, Kitzman JO, Hiatt JB, Lewis AP, Martin BK, Qiu R, Lee C, Shendure J. The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature. 500: 207-11. PMID 23925245 DOI: 10.1038/nature12064  0.84
2013 Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. American Journal of Human Genetics. 93: 398-404. PMID 23910461 DOI: 10.1016/j.ajhg.2013.06.019  0.84
2013 Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nature Methods. 10: 903-9. PMID 23892896 DOI: 10.1038/nmeth.2572  0.84
2013 Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N. Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nature Genetics. 45: 1021-8. PMID 23892608 DOI: 10.1038/ng.2713  0.84
2013 Buchovecky CM, Turley SD, Brown HM, Kyle SM, McDonald JG, Liu B, Pieper AA, Huang W, Katz DM, Russell DW, Shendure J, Justice MJ. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nature Genetics. 45: 1013-20. PMID 23892605 DOI: 10.1038/ng.2714  0.84
2013 Bradnam KR, Fass JN, Alexandrov A, Baranay P, Bechner M, Birol I, Boisvert S, Chapman JA, Chapuis G, Chikhi R, Chitsaz H, Chou WC, Corbeil J, Del Fabbro C, Docking TR, ... ... Shendure J, et al. Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience. 2: 10. PMID 23870653 DOI: 10.1186/2047-217X-2-10  0.76
2013 Fitzgerald LM, Kumar A, Boyle EA, Zhang Y, McIntosh LM, Kolb S, Stott-Miller M, Smith T, Karyadi DM, Ostrander EA, Hsu L, Shendure J, Stanford JL. Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 22: 1520-8. PMID 23833122 DOI: 10.1158/1055-9965.EPI-13-0345  0.84
2013 Thompson O, Edgley M, Strasbourger P, Flibotte S, Ewing B, Adair R, Au V, Chaudhry I, Fernando L, Hutter H, Kieffer A, Lau J, Lee N, Miller A, Raymant G, ... ... Shendure J, et al. The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Research. 23: 1749-62. PMID 23800452 DOI: 10.1101/gr.157651.113  0.84
2013 Salipante SJ, Sengupta DJ, Rosenthal C, Costa G, Spangler J, Sims EH, Jacobs MA, Miller SI, Hoogestraat DR, Cookson BT, McCoy C, Matsen FA, Shendure J, Lee CC, Harkins TT, et al. Rapid 16S rRNA next-generation sequencing of polymicrobial clinical samples for diagnosis of complex bacterial infections. Plos One. 8: e65226. PMID 23734239 DOI: 10.1371/journal.pone.0065226  0.84
2013 Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, ... ... Shendure J, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics. 45: 825-30. PMID 23708187 DOI: 10.1038/ng.2646  0.84
2013 Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, ... ... Shendure J, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics. 92: 632-6. PMID 23561849 DOI: 10.1016/j.ajhg.2013.03.012  0.84
2013 Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J. Noninvasive fetal genome sequencing: A primer Prenatal Diagnosis. 33: 547-554. PMID 23553552 DOI: 10.1002/pd.4097  0.84
2013 Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, ... ... Shendure J, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. American Journal of Human Genetics. 92: 621-6. PMID 23541344 DOI: 10.1016/j.ajhg.2013.03.002  0.84
2013 Deng X, Berletch JB, Ma W, Nguyen DK, Hiatt JB, Noble WS, Shendure J, Disteche CM. Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation. Developmental Cell. 25: 55-68. PMID 23523075 DOI: 10.1016/j.devcel.2013.01.028  0.84
2013 Starita LM, Pruneda JN, Lo RS, Fowler DM, Kim HJ, Hiatt JB, Shendure J, Brzovic PS, Fields S, Klevit RE. Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis. Proceedings of the National Academy of Sciences of the United States of America. 110: E1263-72. PMID 23509263 DOI: 10.1073/pnas.1303309110  0.84
2013 Shendure J. 2012 Curt Stern Award address. American Journal of Human Genetics. 92: 340-344. PMID 23472756 DOI: 10.1016/j.ajhg.2012.11.020  0.84
2013 Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Research. 23: 843-54. PMID 23382536 DOI: 10.1101/gr.147686.112  0.84
2013 Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, ... Shendure J, et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics. 92: 137-43. PMID 23273567 DOI: 10.1016/j.ajhg.2012.11.011  0.84
2013 Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, ... ... Shendure J, et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 92: 99-106. PMID 23261302 DOI: 10.1016/j.ajhg.2012.11.003  0.84
2013 McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, ... ... Shendure J, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6. PMID 23261301 DOI: 10.1016/j.ajhg.2012.11.014  0.84
2013 Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 493: 216-20. PMID 23201682 DOI: 10.1038/nature11690  0.84
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Shendure J, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  0.84
2012 Loeb GB, Khan AA, Canner D, Hiatt JB, Shendure J, Darnell RB, Leslie CS, Rudensky AY. Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting. Molecular Cell. 48: 760-70. PMID 23142080 DOI: 10.1016/j.molcel.2012.10.002  0.84
2012 Shendure J, Lieberman Aiden E. The expanding scope of DNA sequencing. Nature Biotechnology. 30: 1084-94. PMID 23138308 DOI: 10.1038/nbt.2421  0.84
2012 Schwartz JJ, Lee C, Hiatt JB, Adey A, Shendure J. Capturing native long-range contiguity by in situ library construction and optical sequencing Proceedings of the National Academy of Sciences of the United States of America. 109: 18749-18754. PMID 23112150 DOI: 10.1073/pnas.1202680109  0.84
2012 Stone B, Rieck M, Rawlings CA, Kas A, Shendure J, Jones H, Buckner JH. Identification of novel HLA class II target epitopes for generation of donor-specific T regulatory cells. Clinical Immunology (Orlando, Fla.). 145: 153-60. PMID 23063892 DOI: 10.1016/j.clim.2012.09.003  0.84
2012 Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 91: 685-93. PMID 23040496 DOI: 10.1016/j.ajhg.2012.08.022  0.84
2012 Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Estimating the human mutation rate using autozygosity in a founder population. Nature Genetics. 44: 1277-81. PMID 23001126 DOI: 10.1038/ng.2418  0.84
2012 Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, ... ... Shendure J, et al. A high-coverage genome sequence from an archaic Denisovan individual. Science (New York, N.Y.). 338: 222-6. PMID 22936568 DOI: 10.1126/science.1224344  0.84
2012 Elde NC, Child SJ, Eickbush MT, Kitzman JO, Rogers KS, Shendure J, Geballe AP, Malik HS. Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses. Cell. 150: 831-41. PMID 22901812 DOI: 10.1016/j.cell.2012.05.049  0.84
2012 Tabor HK, Murray JC, Gammill HS, Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Rubens CE, Santillan MK, Eichler EE, Cheng EY, Bamshad MJ, Shendure J. Non-invasive fetal genome sequencing: opportunities and challenges. American Journal of Medical Genetics. Part A. 158: 2382-4. PMID 22887792 DOI: 10.1002/ajmg.a.35545  0.84
2012 Schwartz JJ, Lee C, Shendure J. Accurate gene synthesis with tag-directed retrieval of sequence-verified DNA molecules. Nature Methods. 9: 913-5. PMID 22886093 DOI: 10.1038/nmeth.2137  0.84
2012 Duan Z, Andronescu M, Schutz K, Lee C, Shendure J, Fields S, Noble WS, Anthony Blau C. A genome-wide 3C-method for characterizing the three-dimensional architectures of genomes. Methods (San Diego, Calif.). 58: 277-88. PMID 22776363 DOI: 10.1016/j.ymeth.2012.06.018  0.84
2012 Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, ... ... Shendure J, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics. 44: 916-21. PMID 22772371 DOI: 10.1038/ng.2348  0.84
2012 Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Shendure J, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/ng.2331  0.84
2012 Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Noninvasive whole-genome sequencing of a human fetus. Science Translational Medicine. 4: 137ra76. PMID 22674554 DOI: 10.1126/scitranslmed.3004323  0.84
2012 Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/ajmg.a.35470  0.84
2012 Kohane IS, Shendure J. What's a Genome Worth? Science Translational Medicine. 4: 133fs13. PMID 22572879 DOI: 10.1126/scitranslmed.3004208  0.84
2012 Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, ... ... Shendure J, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/j.ajhg.2012.04.004  0.84
2012 Tabor HK, Stock J, Brazg T, McMillin MJ, Dent KM, Yu JH, Shendure J, Bamshad MJ. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics. Part A. 158: 1310-9. PMID 22532433 DOI: 10.1002/ajmg.a.35328  0.84
2012 O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, ... ... Shendure J, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/nature10989  0.84
2012 Adey A, Shendure J. Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing Genome Research. 22: 1139-1143. PMID 22466172 DOI: 10.1101/gr.136242.111  0.84
2012 Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Massively parallel functional dissection of mammalian enhancers in vivo. Nature Biotechnology. 30: 265-70. PMID 22371081 DOI: 10.1038/nbt.2136  0.84
2012 Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Shendure J, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/ng.1091  0.84
2012 Hondowicz BD, Schwedhelm KV, Kas A, Tasch MA, Rawlings C, Ramchurren N, McIntosh M, D'Amico LA, Sanda S, Standifer NE, Shendure J, Stone B. Discovery of T cell antigens by high-throughput screening of synthetic minigene libraries. Plos One. 7: e29949. PMID 22253836 DOI: 10.1371/journal.pone.0029949  0.84
2012 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, MacKenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) Nature Genetics. 44: 471. DOI: 10.1038/ng0412-471  0.84
2011 Deng X, Hiatt JB, Nguyen DK, Ercan S, Sturgill D, Hillier LW, Schlesinger F, Davis CA, Reinke VJ, Gingeras TR, Shendure J, Waterston RH, Oliver B, Lieb JD, Disteche CM. Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster. Nature Genetics. 43: 1179-85. PMID 22019781 DOI: 10.1038/ng.948  0.84
2011 Shendure JA, Porreca GJ, Church GM, Gardner AF, Hendrickson CL, Kieleczawa J, Slatko BE. Overview of DNA sequencing strategies. Current Protocols in Molecular Biology. Unit7.1. PMID 21987056 DOI: 10.1002/0471142727.mb0701s96  1
2011 Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ, Nickerson DA, Corey E, Lange PH, Morrissey C, Vessella RL, ... ... Shendure J, et al. Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proceedings of the National Academy of Sciences of the United States of America. 108: 17087-92. PMID 21949389 DOI: 10.1073/pnas.1108745108  0.84
2011 Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews. Genetics. 12: 745-55. PMID 21946919 DOI: 10.1038/nrg3031  0.84
2011 Shendure J. Next-generation human genetics. Genome Biology. 12: 408. PMID 21920048 DOI: 10.1186/gb-2011-12-9-408  0.84
2011 Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, ... ... Shendure J, et al. Mutation discovery in mice by whole exome sequencing. Genome Biology. 12: R86. PMID 21917142 DOI: 10.1186/gb-2011-12-9-r86  0.84
2011 Cooper GM, Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews. Genetics. 12: 628-40. PMID 21850043 DOI: 10.1038/nrg3046  0.84
2011 George RD, McVicker G, Diederich R, Ng SB, MacKenzie AP, Swanson WJ, Shendure J, Thomas JH. Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection. Genome Research. 21: 1686-94. PMID 21795384 DOI: 10.1101/gr.121327.111  0.84
2011 Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms Circulation Research. 109: 680-686. PMID 21778426 DOI: 10.1161/CIRCRESAHA.111.248161  0.84
2011 Cosart T, Beja-Pereira A, Chen S, Ng SB, Shendure J, Luikart G. Exome-wide DNA capture and next generation sequencing in domestic and wild species. Bmc Genomics. 12: 347. PMID 21729323 DOI: 10.1186/1471-2164-12-347  0.84
2011 Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, ... Shendure J, et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Research. 21: 1640-9. PMID 21685127 DOI: 10.1101/gr.124461.111  0.84
2011 Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, ... ... Shendure J, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics. Part A. 155: 1511-6. PMID 21671394 DOI: 10.1002/ajmg.a.34074  0.84
2011 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 43: 585-9. PMID 21572417 DOI: 10.1038/ng.835  0.84
2011 Kumar A, Shendure J, Nelson PS. Genome interrupted: sequencing of prostate cancer reveals the importance of chromosomal rearrangements. Genome Medicine. 3: 23. PMID 21542879 DOI: 10.1186/gm237  0.84
2011 Muthappan V, Lee AY, Lamprecht TL, Akileswaran L, Dintzis SM, Lee C, Magrini V, Mardis ER, Shendure J, Van Gelder RN. Biome representational in silico karyotyping. Genome Research. 21: 626-33. PMID 21324882 DOI: 10.1101/gr.115758.110  0.84
2011 Gallagher LA, Shendure J, Manoil C. Genome-scale identification of resistance functions in Pseudomonas aeruginosa using Tn-seq. Mbio. 2: e00315-10. PMID 21253457 DOI: 10.1128/mBio.00315-10  0.84
2011 Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nature Biotechnology. 29: 59-63. PMID 21170042 DOI: 10.1038/nbt.1740  0.84
2011 Nelson FK, Snyder M, Gardner AF, Hendrickson CL, Shendure JA, Porreca GJ, Church GM, Ausubel FM, Ju J, Kieleczawa J, Slatko BE. Introduction and historical overview of DNA sequencing Current Protocols in Molecular Biology. DOI: 10.1002/0471142727.mb0700s96  0.84
2010 Adey A, Morrison HG, Asan, Xun X, Kitzman JO, Turner EH, Stackhouse B, MacKenzie AP, Caruccio NC, Zhang X, Shendure J. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition Genome Biology. 11. PMID 21143862 DOI: 10.1186/gb-2010-11-12-r119  0.84
2010 Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE. Diversity of human copy number variation and multicopy genes. Science (New York, N.Y.). 330: 641-6. PMID 21030649 DOI: 10.1126/science.1197005  0.84
2010 Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Human Molecular Genetics. 19: R119-24. PMID 20846941 DOI: 10.1093/hmg/ddq390  0.84
2010 Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Human Molecular Genetics. 19: 4313-8. PMID 20719861 DOI: 10.1093/hmg/ddq352  0.84
2010 Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, ... ... Shendure J, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics. 42: 790-3. PMID 20711175 DOI: 10.1038/ng.646  0.84
2010 Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ, Nickerson DA, Shendure J. Targeted enrichment of specific regions in the human genome by array hybridization. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Unit 18.3. PMID 20582915 DOI: 10.1002/0471142905.hg1803s66  0.84
2010 Duan Z, Andronescu M, Schutz K, McIlwain S, Kim YJ, Lee C, Shendure J, Fields S, Blau CA, Noble WS. A three-dimensional model of the yeast genome. Nature. 465: 363-7. PMID 20436457 DOI: 10.1038/nature08973  0.84
2010 Yang F, Babak T, Shendure J, Disteche CM. Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Research. 20: 614-22. PMID 20363980 DOI: 10.1101/gr.103200.109  0.84
2010 Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nature Methods. 7: 250-1. PMID 20354513 DOI: 10.1038/nmeth0410-250  0.84
2010 Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (New York, N.Y.). 328: 636-9. PMID 20220176 DOI: 10.1126/science.1186802  0.84
2010 Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. Target-enrichment strategies for next-generation sequencing. Nature Methods. 7: 111-8. PMID 20111037 DOI: 10.1038/nmeth.1419  0.84
2010 Shendure J. Journal club. A geneticist discusses a way to assess the effects of disease-causing gene mutations. Nature. 463: 405. PMID 20110948 DOI: 10.1038/463405e  0.84
2010 Hiatt JB, Patwardhan RP, Turner EH, Lee C, Shendure J. Parallel, tag-directed assembly of locally derived short sequence reads Nature Methods. 7: 119-122. PMID 20081835 DOI: 10.1038/nmeth.1416  0.84
2010 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics. 42: 30-5. PMID 19915526 DOI: 10.1038/ng.499  0.84
2009 Thomas JH, Emerson RO, Shendure J. Extraordinary molecular evolution in the PRDM9 fertility gene. Plos One. 4: e8505. PMID 20041164 DOI: 10.1371/journal.pone.0008505  0.84
2009 Patwardhan RP, Lee C, Litvin O, Young DL, Pe'Er D, Shendure J. High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis Nature Biotechnology. 27: 1173-1175. PMID 19915551 DOI: 10.1038/nbt.1589  0.84
2009 Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Next generation sequence analysis for mitochondrial disorders. Genome Medicine. 1: 100. PMID 19852779 DOI: 10.1186/gm100  0.84
2009 Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 461: 272-6. PMID 19684571 DOI: 10.1038/nature08250  0.84
2009 Turner EH, Ng SB, Nickerson DA, Shendure J. Methods for genomic partitioning. Annual Review of Genomics and Human Genetics. 10: 263-84. PMID 19630561 DOI: 10.1146/annurev-genom-082908-150112  0.84
2009 Shendure J, Stewart CJ. Cancer genomes on a shoestring budget. The New England Journal of Medicine. 360: 2781-3. PMID 19516026 DOI: 10.1056/NEJMe0903433  0.84
2009 Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. American Journal of Human Genetics. 84: 692-7. PMID 19409521 DOI: 10.1016/j.ajhg.2009.04.008  0.84
2009 Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nature Methods. 6: 315-6. PMID 19349981 DOI: 10.1038/nmeth.f.248  0.84
2008 Shendure J, Ji H. Next-generation DNA sequencing. Nature Biotechnology. 26: 1135-45. PMID 18846087 DOI: 10.1038/nbt1486  0.84
2008 Shendure J. The beginning of the end for microarrays? Nature Methods. 5: 585-7. PMID 18587314 DOI: 10.1038/nmeth0708-585  0.84
2008 Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... Shendure J, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. 82: 712-22. PMID 18319076 DOI: 10.1016/j.ajhg.2008.01.011  0.84
2008 Shendure JA, Porreca GJ, Church GM. Overview of DNA sequencing strategies. Current Protocols in Molecular Biology. Unit 7.1. PMID 18231983 DOI: 10.1002/0471142727.mb0701s81  1
2008 Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... Shendure J, et al. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) American Journal of Human Genetics. 83: 425-427. DOI: 10.1016/j.ajhg.2008.08.011  0.84
2007 Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, LeProust EM, Peck BJ, Emig CJ, Dahl F, Gao Y, Church GM, Shendure J. Multiplex amplification of large sets of human exons. Nature Methods. 4: 931-6. PMID 17934468 DOI: 10.1038/nmeth1110  1
2007 Moskowitz IP, Kim JB, Moore ML, Wolf CM, Peterson MA, Shendure J, Nobrega MA, Yokota Y, Berul C, Izumo S, Seidman JG, Seidman CE. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 129: 1365-76. PMID 17604724 DOI: 10.1016/j.cell.2007.04.036  0.84
2006 Porreca GJ, Shendure J, Church GM. Polony DNA sequencing. Current Protocols in Molecular Biology. Unit 7.8. PMID 18265387 DOI: 10.1002/0471142727.mb0708s76  1
2006 Turner DJ, Shendure J, Porreca G, Church G, Green P, Tyler-Smith C, Hurles ME. Assaying chromosomal inversions by single-molecule haplotyping. Nature Methods. 3: 439-45. PMID 16721377 DOI: 10.1038/nmeth881  0.36
2006 Zhang K, Zhu J, Shendure J, Porreca GJ, Aach JD, Mitra RD, Church GM. Long-range polony haplotyping of individual human chromosome molecules. Nature Genetics. 38: 382-7. PMID 16493423 DOI: 10.1038/ng1741  1
2005 Shendure J, Porreca GJ, Reppas NB, Lin X, McCutcheon JP, Rosenbaum AM, Wang MD, Zhang K, Mitra RD, Church GM. Accurate multiplex polony sequencing of an evolved bacterial genome. Science (New York, N.Y.). 309: 1728-32. PMID 16081699 DOI: 10.1126/science.1117389  1
2005 Zhu Z, Shendure J, Church GM. Discovering functional transcription-factor combinations in the human cell cycle. Genome Research. 15: 848-55. PMID 15930495 DOI: 10.1101/gr.3394405  1
2004 Shendure J, Mitra RD, Varma C, Church GM. Advanced sequencing technologies: methods and goals. Nature Reviews. Genetics. 5: 335-44. PMID 15143316 DOI: 10.1038/nrg1325  1
2003 Zhu J, Shendure J, Mitra RD, Church GM. Single molecule profiling of alternative pre-mRNA splicing. Science (New York, N.Y.). 301: 836-8. PMID 12907803 DOI: 10.1126/science.1085792  1
2003 Mitra RD, Shendure J, Olejnik J, Edyta-Krzymanska-Olejnik, Church GM. Fluorescent in situ sequencing on polymerase colonies. Analytical Biochemistry. 320: 55-65. PMID 12895469  1
2003 Mitra RD, Butty VL, Shendure J, Williams BR, Housman DE, Church GM. Digital genotyping and haplotyping with polymerase colonies. Proceedings of the National Academy of Sciences of the United States of America. 100: 5926-31. PMID 12730373 DOI: 10.1073/pnas.0936399100  1
2002 Shendure J, Church GM. Computational discovery of sense-antisense transcription in the human and mouse genomes. Genome Biology. 3: RESEARCH0044. PMID 12225583  1
2002 Weber G, Shendure J, Tanenbaum DM, Church GM, Meyerson M. Identification of foreign gene sequences by transcript filtering against the human genome. Nature Genetics. 30: 141-2. PMID 11788827 DOI: 10.1038/ng818  1
2001 Badarinarayana V, Estep PW, Shendure J, Edwards J, Tavazoie S, Lam F, Church GM. Selection analyses of insertional mutants using subgenic-resolution arrays. Nature Biotechnology. 19: 1060-5. PMID 11689852 DOI: 10.1038/nbt1101-1060  0.84
2001 Aach J, Bulyk ML, Church GM, Comander J, Derti A, Shendure J. Computational comparison of two draft sequences of the human genome. Nature. 409: 856-9. PMID 11237010 DOI: 10.1038/35057055  0.84
1999 Liang X, Munshi S, Shendure J, Mark G, Davies ME, Freed DC, Montefiori DC, Shiver JW. Epitope insertion into variable loops of HIV-1 gp120 as a potential means to improve immunogenicity of viral envelope protein. Vaccine. 17: 2862-72. PMID 10438057 DOI: 10.1016/S0264-410X(99)00125-5  0.84
1998 Peirce JL, Derr R, Shendure J, Kolata T, Silver LM. A major influence of sex-specific loci on alcohol preference in C57Bl/6 and DBA/2 inbred mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 942-8. PMID 9880657 DOI: 10.1007/s003359900904  0.84
1998 Shendure J, Melo JA, Pociask K, Derr R, Silver LM. Sex-restricted non-Mendelian inheritance of mouse chromosome 11 in the offspring of crosses between C57BL/6J and (C57BL/6J x DBA/2J)F1 mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 812-5. PMID 9745035 DOI: 10.1007/s003359900872  0.84
1996 Melo JA, Shendure J, Pociask K, Silver LM. Identification of sex-specific quantitative trait loci controlling alcohol preference in C57BL/ 6 mice. Nature Genetics. 13: 147-53. PMID 8640219 DOI: 10.1038/ng0696-147  0.84
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