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Evan Eichler, Ph.D. - Publications

Affiliations: 
Genome Sciences University of Washington, Seattle, Seattle, WA 
Area:
Human genome and disease gene analysis
Website:
http://eichlerlab.gs.washington.edu/
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499 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, 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
2024 Mastrorosa FK, Oshima KK, Rozanski AN, Harvey WT, Eichler EE, Logsdon GA. Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-Finder. Biorxiv : the Preprint Server For Biology. PMID 39574726 DOI: 10.1101/2024.11.01.621587  0.37
2024 Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, ... ... Eichler EE, et al. Complex genetic variation in nearly complete human genomes. Biorxiv : the Preprint Server For Biology. PMID 39372794 DOI: 10.1101/2024.09.24.614721  0.743
2024 Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, ... ... Eichler EE, et al. High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Research. PMID 39358015 DOI: 10.1101/gr.279273.124  0.431
2024 Porubsky D, Guitart X, Yoo D, Dishuck PC, Harvey WT, Eichler EE. SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies. Biorxiv : the Preprint Server For Biology. PMID 39345373 DOI: 10.1101/2024.09.11.612418  0.346
2024 Fornezza S, Delvecchio VS, Harvey WT, Dishuck PC, Eichler EE, Giannuzzi G. duplicons associate with structural diversity at Chromosome 10q11.22. Genome Research. PMID 39322278 DOI: 10.1101/gr.279454.124  0.484
2024 Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, ... ... Eichler EE, et al. A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree. Biorxiv : the Preprint Server For Biology. PMID 39149261 DOI: 10.1101/2024.08.05.606142  0.417
2024 Yoo D, Rhie A, Hebbar P, Antonacci F, Logsdon GA, Solar SJ, Antipov D, Pickett BD, Safonova Y, Montinaro F, Luo Y, Malukiewicz J, Storer JM, Lin J, Sequeira AN, ... ... Eichler EE, et al. Complete sequencing of ape genomes. Biorxiv : the Preprint Server For Biology. PMID 39131277 DOI: 10.1101/2024.07.31.605654  0.862
2024 Guitart X, Porubsky D, Yoo D, Dougherty ML, Dishuck P, Munson KM, Lewis AP, Hoekzema K, Knuth J, Chang S, Pastinen T, Eichler EE. Independent expansion, selection and hypervariability of the gene family in humans. Genome Research. PMID 39107043 DOI: 10.1101/gr.279299.124  0.39
2024 Plender EG, Prodanov T, Hsieh P, Nizamis E, Harvey WT, Sulovari A, Munson KM, Kaufman EJ, O'Neal WK, Valdmanis PN, Marschall T, Bloom JD, Eichler EE. Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B. American Journal of Human Genetics. PMID 38991590 DOI: 10.1016/j.ajhg.2024.06.007  0.345
2024 Jeong H, Dishuck PC, Yoo D, Harvey WT, Munson KM, Lewis AP, Kordosky J, Garcia GH, Yilmaz F, Hallast P, Lee C, Pastinen T, Eichler EE. Structural polymorphism and diversity of human segmental duplications. Biorxiv : the Preprint Server For Biology. PMID 38895457 DOI: 10.1101/2024.06.04.597452  0.5
2024 Makova KD, Pickett BD, Harris RS, Hartley GA, Cechova M, Pal K, Nurk S, Yoo D, Li Q, Hebbar P, McGrath BC, Antonacci F, Aubel M, Biddanda A, Borchers M, ... ... Eichler EE, et al. The complete sequence and comparative analysis of ape sex chromosomes. Nature. PMID 38811727 DOI: 10.1038/s41586-024-07473-2  0.76
2024 Guitart X, Porubsky D, Yoo D, Dougherty ML, Dishuck PC, Munson KM, Lewis AP, Hoekzema K, Knuth J, Chang S, Pastinen T, Eichler EE. Independent expansion, selection and hypervariability of the gene family in humans. Biorxiv : the Preprint Server For Biology. PMID 38654825 DOI: 10.1101/2024.03.12.584650  0.381
2024 Zhang S, Xu N, Fu L, Yang X, Li Y, Yang Z, Feng Y, Ma K, Jiang X, Han J, Hu R, Zhang L, de Gennaro L, Ryabov F, Meng D, ... ... Eichler EE, et al. Comparative genomics of macaques and integrated insights into genetic variation and population history. Biorxiv : the Preprint Server For Biology. PMID 38645259 DOI: 10.1101/2024.04.07.588379  0.787
2024 Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen H, McNulty B, Porubsky D, Montague T, Lucas J, Condon C, Eizenga JM, Juul S, McKenzie S, Simmonds SE, Park J, ... ... Eichler E, et al. Phased nanopore assembly with Shasta and modular graph phasing with GFAse. Genome Research. PMID 38627094 DOI: 10.1101/gr.278268.123  0.308
2024 Logsdon GA, Rozanski AN, Ryabov F, Potapova T, Shepelev VA, Catacchio CR, Porubsky D, Mao Y, Yoo D, Rautiainen M, Koren S, Nurk S, Lucas JK, Hoekzema K, Munson KM, ... ... Eichler EE, et al. The variation and evolution of complete human centromeres. Nature. PMID 38570684 DOI: 10.1038/s41586-024-07278-3  0.727
2024 Plender EG, Prodanov T, Hsieh P, Nizamis E, Harvey WT, Sulovari A, Munson KM, Kaufman EJ, O'Neal WK, Valdmanis PN, Marschall T, Bloom JD, Eichler EE. Structural and genetic diversity in the secreted mucins, and . Biorxiv : the Preprint Server For Biology. PMID 38562829 DOI: 10.1101/2024.03.18.585560  0.325
2024 Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, ... ... Eichler EE, et al. Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. Medrxiv : the Preprint Server For Health Sciences. PMID 38496498 DOI: 10.1101/2024.03.05.24303792  0.431
2024 Mao Y, Harvey WT, Porubsky D, Munson KM, Hoekzema K, Lewis AP, Audano PA, Rozanski A, Yang X, Zhang S, Yoo D, Gordon DS, Fair T, Wei X, Logsdon GA, ... ... Eichler EE, et al. Structurally divergent and recurrently mutated regions of primate genomes. Cell. PMID 38428424 DOI: 10.1016/j.cell.2024.01.052  0.739
2024 Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, et al. Personal journeys to and in human genetics and dysmorphology. American Journal of Medical Genetics. Part A. e63514. PMID 38329159 DOI: 10.1002/ajmg.a.63514  0.416
2024 Porubsky D, Eichler EE. A 25-year odyssey of genomic technology advances and structural variant discovery. Cell. PMID 38290514 DOI: 10.1016/j.cell.2024.01.002  0.396
2023 Harvey WT, Ebert P, Ebler J, Audano PA, Munson KM, Hoekzema K, Porubsky D, Beck CR, Marschall T, Garimella K, Eichler EE. Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall. Genome Research. 33: 2029-2040. PMID 38190646 DOI: 10.1101/gr.278070.123  0.399
2023 Harris RA, Raveendran M, Warren W, LaDeana HW, Tomlinson C, Graves-Lindsay T, Green RE, Schmidt JK, Colwell JC, Makulec AT, Cole SA, Cheeseman IH, Ross CN, Capuano S, Eichler EE, et al. Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (). Genes. 14. PMID 38137007 DOI: 10.3390/genes14122185  0.491
2023 Makova KD, Pickett BD, Harris RS, Hartley GA, Cechova M, Pal K, Nurk S, Yoo D, Li Q, Hebbar P, McGrath BC, Antonacci F, Aubel M, Biddanda A, Borchers M, ... ... Eichler E, et al. The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes. Biorxiv : the Preprint Server For Biology. PMID 38077089 DOI: 10.1101/2023.11.30.569198  0.767
2023 Okhovat M, VanCampen J, Nevonen KA, Harshman L, Li W, Layman CE, Ward S, Herrera J, Wells J, Sheng RR, Mao Y, Ndjamen B, Lima AC, Vigh-Conrad KA, Stendahl AM, ... ... Eichler EE, et al. TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. Nature Communications. 14: 8111. PMID 38062027 DOI: 10.1038/s41467-023-43841-8  0.634
2023 Morgan MAJ, Mohammad Parast S, Iwanaszko M, Aoi Y, Yoo D, Dumar ZJ, Howard BC, Helmin KA, Liu Q, Thakur WR, Zeidner JM, Singer BD, Eichler EE, Shilatifard A. : A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster. Science Advances. 9: eadj1261. PMID 37992162 DOI: 10.1126/sciadv.adj1261  0.345
2023 Paparella A, L'Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus. International Journal of Molecular Sciences. 24. PMID 37958807 DOI: 10.3390/ijms242115818  0.67
2023 Miga KH, Eichler EE. Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes. American Journal of Human Genetics. 110: 1832-1840. PMID 37922882 DOI: 10.1016/j.ajhg.2023.09.011  0.426
2023 Chaisson MJP, Sulovari A, Valdmanis PN, Miller DE, Eichler EE. Advances in the discovery and analyses of human tandem repeats. Emerging Topics in Life Sciences. PMID 37905568 DOI: 10.1042/ETLS20230074  0.701
2023 Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen NC, Chin CS, ... ... Eichler EE, et al. The complete sequence of a human Y chromosome. Nature. PMID 37612512 DOI: 10.1038/s41586-023-06457-y  0.446
2023 Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, ... ... Eichler EE, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. PMID 37612510 DOI: 10.1038/s41586-023-06425-6  0.448
2023 Yang X, Mao Y, Wang XK, Ma DN, Xu Z, Gong N, Henning B, Zhang X, He G, Shi YY, Eichler EE, Li ZQ, Takahashi E, Li WD. Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing. Zoological Research. 44: 837-847. PMID 37501399 DOI: 10.24272/j.issn.2095-8137.2022.514  0.698
2023 Yang X, Wang X, Zou Y, Zhang S, Xia M, Fu L, Vollger MR, Chen NC, Taylor DJ, Harvey WT, Logsdon GA, Meng D, Shi J, McCoy RC, Schatz MC, ... ... Eichler EE, et al. Characterization of large-scale genomic differences in the first complete human genome. Genome Biology. 24: 157. PMID 37403156 DOI: 10.1186/s13059-023-02995-w  0.712
2023 Logsdon GA, Rozanski AN, Ryabov F, Potapova T, Shepelev VA, Mao Y, Rautiainen M, Koren S, Nurk S, Porubsky D, Lucas JK, Hoekzema K, Munson KM, Gerton JL, Phillippy AM, ... ... Eichler EE, et al. The variation and evolution of complete human centromeres. Biorxiv : the Preprint Server For Biology. PMID 37398417 DOI: 10.1101/2023.05.30.542849  0.713
2023 Ferraj A, Audano PA, Balachandran P, Czechanski A, Flores JI, Radecki AA, Mosur V, Gordon DS, Walawalkar IA, Eichler EE, Reinholdt LG, Beck CR. Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements. Cell Genomics. 3: 100291. PMID 37228752 DOI: 10.1016/j.xgen.2023.100291  0.42
2023 Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E, Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, et al. Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. Npj Genomic Medicine. 8: 9. PMID 37225732 DOI: 10.1038/s41525-023-00354-z  0.747
2023 Harvey WT, Ebert P, Ebler J, Audano PA, Munson KM, Hoekzema K, Porubsky D, Beck CR, Marschall T, Garimella K, Eichler EE. Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall. Biorxiv : the Preprint Server For Biology. PMID 37205567 DOI: 10.1101/2023.05.04.539448  0.399
2023 Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, ... ... Eichler EE, et al. A draft human pangenome reference. Nature. 617: 312-324. PMID 37165242 DOI: 10.1038/s41586-023-05896-x  0.729
2023 Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M, Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, ... ... Eichler EE, et al. Increased mutation and gene conversion within human segmental duplications. Nature. 617: 325-334. PMID 37165237 DOI: 10.1038/s41586-023-05895-y  0.426
2023 Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C, Korbel JO, Paten B, Marschall T, Eichler EE. Gaps and complex structurally variant loci in phased genome assemblies. Genome Research. 33: 496-510. PMID 37164484 DOI: 10.1101/gr.277334.122  0.378
2023 Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P, Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE. Inversion polymorphism in a complete human genome assembly. Genome Biology. 24: 100. PMID 37122002 DOI: 10.1186/s13059-023-02919-8  0.426
2023 Okhovat M, VanCampen J, Lima AC, Nevonen KA, Layman CE, Ward S, Herrera J, Stendahl AM, Yang R, Harshman L, Li W, Sheng RR, Mao Y, Fedorov L, Ndjamen B, ... ... Eichler EE, et al. TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. Biorxiv : the Preprint Server For Biology. PMID 36945527 DOI: 10.1101/2023.03.07.531534  0.634
2023 Mao Y, Harvey WT, Porubsky D, Munson KM, Hoekzema K, Lewis AP, Audano PA, Rozanski A, Yang X, Zhang S, Gordon DS, Wei X, Logsdon GA, Haukness M, Dishuck PC, ... ... Eichler EE, et al. Structurally divergent and recurrently mutated regions of primate genomes. Biorxiv : the Preprint Server For Biology. PMID 36945442 DOI: 10.1101/2023.03.07.531415  0.751
2023 Rautiainen M, Nurk S, Walenz BP, Logsdon GA, Porubsky D, Rhie A, Eichler EE, Phillippy AM, Koren S. Telomere-to-telomere assembly of diploid chromosomes with Verkko. Nature Biotechnology. PMID 36797493 DOI: 10.1038/s41587-023-01662-6  0.365
2023 Jun G, English A, Metcalf G, Yang J, Chaisson M, Pankratz N, Menon V, Salerno W, Krasheninina O, Smith A, Lane J, Blackwell T, Kang HM, Salvi S, Meng Q, ... ... Eichler E, et al. Structural variation across 138,134 samples in the TOPMed consortium. Research Square. PMID 36778386 DOI: 10.21203/rs.3.rs-2515453/v1  0.695
2023 Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, ... ... Eichler EE, et al. Structural variation across 138,134 samples in the TOPMed consortium. Biorxiv : the Preprint Server For Biology. PMID 36747810 DOI: 10.1101/2023.01.25.525428  0.696
2022 Logsdon GA, Eichler EE. The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA. Genes. 14. PMID 36672831 DOI: 10.3390/genes14010092  0.334
2022 Gibson WS, Rodriguez OL, Shields K, Silver CA, Dorgham A, Emery M, Deikus G, Sebra R, Eichler EE, Bashir A, Smith ML, Watson CT. Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation. Genes and Immunity. PMID 36539592 DOI: 10.1038/s41435-022-00188-2  0.432
2022 Wang T, Kim CN, Bakken TE, Gillentine MA, Henning B, Mao Y, Gilissen C, Nowakowski TJ, Eichler EE. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. Proceedings of the National Academy of Sciences of the United States of America. 119: e2203491119. PMID 36350923 DOI: 10.1073/pnas.2203491119  0.659
2022 Dishuck PC, Rozanski AN, Logsdon GA, Porubsky D, Eichler EE. GAVISUNK: Genome assembly validation via inter-SUNK distances in Oxford Nanopore reads. Bioinformatics (Oxford, England). PMID 36321867 DOI: 10.1093/bioinformatics/btac714  0.355
2022 Jarvis ED, Formenti G, Rhie A, Guarracino A, Yang C, Wood J, Tracey A, Thibaud-Nissen F, Vollger MR, Porubsky D, Cheng H, Asri M, Logsdon GA, Carnevali P, Chaisson MJP, ... ... Eichler EE, et al. Semi-automated assembly of high-quality diploid human reference genomes. Nature. PMID 36261518 DOI: 10.1038/s41586-022-05325-5  0.739
2022 Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, ... ... Eichler EE, et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics. PMID 35982159 DOI: 10.1038/s41588-022-01148-2  0.669
2022 Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, ... ... Eichler EE, et al. Author Correction: Comparative and demographic analysis of orang-utan genomes. Nature. PMID 35962045 DOI: 10.1038/s41586-022-04799-7  0.828
2022 Miller DE, Hanna P, Galey M, Reyes M, Linglart A, Eichler EE, Jüppner H. Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B). Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 35811283 DOI: 10.1002/jbmr.4647  0.311
2022 Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E, Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, et al. Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. Npj Genomic Medicine. 7: 38. PMID 35715439 DOI: 10.1038/s41525-022-00308-x  0.801
2022 van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, ... ... Eichler EE, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35579625 DOI: 10.1016/j.gim.2022.04.010  0.336
2022 Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, ... ... Eichler EE, et al. Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell. PMID 35525246 DOI: 10.1016/j.cell.2022.04.017  0.713
2022 Wang T, Antonacci-Fulton L, Howe K, Lawson HA, Lucas JK, Phillippy AM, Popejoy AB, Asri M, Carson C, Chaisson MJP, Chang X, Cook-Deegan R, Felsenfeld AL, Fulton RS, Garrison EP, ... ... Eichler EE, et al. The Human Pangenome Project: a global resource to map genomic diversity. Nature. 604: 437-446. PMID 35444317 DOI: 10.1038/s41586-022-04601-8  0.746
2022 Cingoz S, Soydemir D, Oner TO, Karaca E, Ozden B, Kurul SH, Bayram E, Coe BP, Nickerson DA, Eichler EE. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. European Journal of Medical Genetics. 104497. PMID 35430327 DOI: 10.1016/j.ejmg.2022.104497  0.561
2022 Wang T, Zhao PA, Eichler EE. Rare variants and the oligogenic architecture of autism. Trends in Genetics : Tig. PMID 35410794 DOI: 10.1016/j.tig.2022.03.009  0.315
2022 Ebler J, Ebert P, Clarke WE, Rausch T, Audano PA, Houwaart T, Mao Y, Korbel JO, Eichler EE, Zody MC, Dilthey AT, Marschall T. Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. Nature Genetics. 54: 518-525. PMID 35410384 DOI: 10.1038/s41588-022-01043-w  0.717
2022 Hoyt SJ, Storer JM, Hartley GA, Grady PGS, Gershman A, de Lima LG, Limouse C, Halabian R, Wojenski L, Rodriguez M, Altemose N, Rhie A, Core LJ, Gerton JL, Makalowski W, ... ... Eichler EE, et al. From telomere to telomere: The transcriptional and epigenetic state of human repeat elements. Science (New York, N.Y.). 376: eabk3112. PMID 35357925 DOI: 10.1126/science.abk3112  0.429
2022 Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, ... ... Eichler EE, et al. The complete sequence of a human genome. Science (New York, N.Y.). 376: 44-53. PMID 35357919 DOI: 10.1126/science.abj6987  0.681
2022 Vollger MR, Guitart X, Dishuck PC, Mercuri L, Harvey WT, Gershman A, Diekhans M, Sulovari A, Munson KM, Lewis AP, Hoekzema K, Porubsky D, Li R, Nurk S, Koren S, ... ... Eichler EE, et al. Segmental duplications and their variation in a complete human genome. Science (New York, N.Y.). 376: eabj6965. PMID 35357917 DOI: 10.1126/science.abj6965  0.482
2022 Gershman A, Sauria MEG, Guitart X, Vollger MR, Hook PW, Hoyt SJ, Jain M, Shumate A, Razaghi R, Koren S, Altemose N, Caldas GV, Logsdon GA, Rhie A, Eichler EE, et al. Epigenetic patterns in a complete human genome. Science (New York, N.Y.). 376: eabj5089. PMID 35357915 DOI: 10.1126/science.abj5089  0.456
2022 Altemose N, Logsdon GA, Bzikadze AV, Sidhwani P, Langley SA, Caldas GV, Hoyt SJ, Uralsky L, Ryabov FD, Shew CJ, Sauria MEG, Borchers M, Gershman A, Mikheenko A, Shepelev VA, ... ... Eichler EE, et al. Complete genomic and epigenetic maps of human centromeres. Science (New York, N.Y.). 376: eabl4178. PMID 35357911 DOI: 10.1126/science.abl4178  0.672
2022 Noyes MD, Harvey WT, Porubsky D, Sulovari A, Li R, Rose NR, Audano PA, Munson KM, Lewis AP, Hoekzema K, Mantere T, Graves-Lindsay TA, Sanders AD, Goodwin S, Kramer M, ... ... Eichler EE, et al. Familial long-read sequencing increases yield of de novo mutations. American Journal of Human Genetics. PMID 35290762 DOI: 10.1016/j.ajhg.2022.02.014  0.429
2021 Mouakkad-Montoya L, Murata MM, Sulovari A, Suzuki R, Osia B, Malkova A, Katsumata M, Giuliano AE, Eichler EE, Tanaka H. Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34789574 DOI: 10.1073/pnas.2102842118  0.4
2021 Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, ... ... Eichler EE, et al. A family study implicates GBE1 in the etiology of autism spectrum disorder. Human Mutation. PMID 34633740 DOI: 10.1002/humu.24289  0.54
2021 Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Alpha satellite insertion close to an ancestral centromeric region. Molecular Biology and Evolution. PMID 34464971 DOI: 10.1093/molbev/msab244  0.309
2021 Hsieh P, Dang V, Vollger MR, Mao Y, Huang TH, Dishuck PC, Baker C, Cantsilieris S, Lewis AP, Munson KM, Sorensen M, Welch AE, Underwood JG, Eichler EE. Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Nature Communications. 12: 5118. PMID 34433829 DOI: 10.1038/s41467-021-25435-4  0.69
2021 Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA, ... ... Eichler EE, et al. Recent ultra-rare inherited variants implicate new autism candidate risk genes. Nature Genetics. PMID 34312540 DOI: 10.1038/s41588-021-00899-8  0.625
2021 Course MM, Sulovari A, Gudsnuk K, Eichler EE, Valdmanis PN. Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats. Genome Research. PMID 34244228 DOI: 10.1101/gr.275560.121  0.45
2021 Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, ... ... Eichler EE, et al. Targeted long-read sequencing identifies missing disease-causing variation. American Journal of Human Genetics. PMID 34216551 DOI: 10.1016/j.ajhg.2021.06.006  0.594
2021 Mao Y, Catacchio CR, Hillier LW, Porubsky D, Li R, Sulovari A, Fernandes JD, Montinaro F, Gordon DS, Storer JM, Haukness M, Fiddes IT, Murali SC, Dishuck PC, Hsieh P, ... ... Eichler EE, et al. A high-quality bonobo genome refines the analysis of hominid evolution. Nature. PMID 33953399 DOI: 10.1038/s41586-021-03519-x  0.814
2021 Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, ... ... Eichler EE, et al. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Medicine. 13: 63. PMID 33874999 DOI: 10.1186/s13073-021-00870-6  0.358
2021 Logsdon GA, Vollger MR, Hsieh P, Mao Y, Liskovykh MA, Koren S, Nurk S, Mercuri L, Dishuck PC, Rhie A, de Lima LG, Dvorkina T, Porubsky D, Harvey WT, Mikheenko A, ... ... Eichler EE, et al. The structure, function and evolution of a complete human chromosome 8. Nature. PMID 33828295 DOI: 10.1038/s41586-021-03420-7  0.709
2021 Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Gerstein MB, ... ... Eichler EE, et al. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. American Journal of Human Genetics. PMID 33789087 DOI: 10.1016/j.ajhg.2021.03.014  0.745
2021 Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, ... ... Eichler EE, et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science (New York, N.Y.). PMID 33632895 DOI: 10.1126/science.abf7117  0.752
2021 Dingemans AJM, Stremmelaar DE, Vissers LELM, Jansen S, Nabais Sá MJ, van Remortele A, Jonis N, Truijen K, van de Ven S, Ewals J, Verbruggen M, Koolen DA, Brunner HG, Eichler EE, Gecz J, et al. Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. American Journal of Medical Genetics. Part A. PMID 33439542 DOI: 10.1002/ajmg.a.62057  0.303
2020 Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, ... ... Eichler EE, et al. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science (New York, N.Y.). 370. PMID 33335035 DOI: 10.1126/science.abc6617  0.821
2020 Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, Munson KM, Sorensen M, Sulovari A, Haukness M, Ghareghani M, Lansdorp PM, Paten B, ... ... Eichler EE, et al. Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads. Nature Biotechnology. PMID 33288906 DOI: 10.1038/s41587-020-0719-5  0.707
2020 Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, et al. Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. Genome Research. PMID 33093070 DOI: 10.1101/gr.265322.120  0.844
2020 Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, ... ... Eichler EE, et al. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications. 11: 5398. PMID 33087701 DOI: 10.1038/s41467-020-19289-5  0.547
2020 Rodriguez OL, Gibson WS, Parks T, Emery M, Powell J, Strahl M, Deikus G, Auckland K, Eichler EE, Marasco WA, Sebra R, Sharp AJ, Smith ML, Bashir A, Watson CT. A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus. Frontiers in Immunology. 11: 2136. PMID 33072076 DOI: 10.3389/fimmu.2020.02136  0.584
2020 Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, ... ... Eichler EE, et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications. 11: 4932. PMID 33004838 DOI: 10.1038/s41467-020-18723-y  0.587
2020 Nurk S, Walenz BP, Rhie A, Vollger MR, Logsdon GA, Grothe R, Miga KH, Eichler EE, Phillippy AM, Koren S. HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads. Genome Research. PMID 32801147 DOI: 10.1101/Gr.263566.120  0.411
2020 Cantsilieris S, Sunkin SM, Johnson ME, Anaclerio F, Huddleston J, Baker C, Dougherty ML, Underwood JG, Sulovari A, Hsieh P, Mao Y, Catacchio CR, Malig M, Welch AE, Sorensen M, ... ... Eichler EE, et al. An evolutionary driver of interspersed segmental duplications in primates. Genome Biology. 21: 202. PMID 32778141 DOI: 10.1186/S13059-020-02074-4  0.822
2020 Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J, Yu CE, Tsuang DW, Jayadev S, Kay MA, Gitler AD, ... ... Eichler EE, et al. Evolution of a Human-Specific Tandem Repeat Associated with ALS. American Journal of Human Genetics. PMID 32750315 DOI: 10.1016/J.Ajhg.2020.07.004  0.402
2020 Shafin K, Pesout T, Lorig-Roach R, Haukness M, Olsen HE, Bosworth C, Armstrong J, Tigyi K, Maurer N, Koren S, Sedlazeck FJ, Marschall T, Mayes S, Costa V, Zook JM, ... ... Eichler EE, et al. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nature Biotechnology. PMID 32686750 DOI: 10.1038/S41587-020-0503-6  0.406
2020 Miga KH, Koren S, Rhie A, Vollger MR, Gershman A, Bzikadze A, Brooks S, Howe E, Porubsky D, Logsdon GA, Schneider VA, Potapova T, Wood J, Chow W, Armstrong J, ... ... Eichler EE, et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature. PMID 32663838 DOI: 10.1038/S41586-020-2547-7  0.647
2020 Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Research : Official Journal of the International Society For Autism Research. PMID 32597026 DOI: 10.1002/Aur.2332  0.751
2020 Porubsky D, Sanders AD, Höps W, Hsieh P, Sulovari A, Li R, Mercuri L, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Ventura M, Antonacci F, Marschall T, ... ... Eichler EE, et al. Recurrent inversion toggling and great ape genome evolution. Nature Genetics. PMID 32541924 DOI: 10.1038/S41588-020-0646-X  0.696
2020 Logsdon GA, Vollger MR, Eichler EE. Long-read human genome sequencing and its applications. Nature Reviews. Genetics. PMID 32504078 DOI: 10.1038/s41576-020-0236-x  0.446
2020 Zhang QJ, Li W, Li K, Nan H, Shi C, Zhang Y, Dai ZY, Lin YL, Yang XL, Tong Y, Zhang D, Lu C, Feng LY, Wang CF, Liu XX, ... ... Eichler EE, et al. The Chromosome-Level Reference Genome of Tea Tree Unveils Recent Bursts of Non-autonomous LTR Retrotransposons to Drive Genome Size Evolution. Molecular Plant. PMID 32353626 DOI: 10.1016/j.molp.2020.04.009  0.375
2020 Maggiolini FAM, Mercuri L, Antonacci F, Anaclerio F, Calabrese FM, Lorusso N, L'Abbate A, Sorensen M, Giannuzzi G, Eichler EE, Catacchio CR, Ventura M. Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates. Genes. 11. PMID 32085667 DOI: 10.3390/Genes11020213  0.669
2020 Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Weimin B, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, et al. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder. Human Mutation. PMID 31999386 DOI: 10.1002/Humu.23992  0.417
2020 Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, ... ... Eichler EE, et al. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nature Communications. 11: 255. PMID 31937769 DOI: 10.1038/S41467-019-13624-1  0.651
2019 Liu J, Shi C, Shi CC, Li W, Zhang QJ, Zhang Y, Li K, Lu HF, Shi C, Zhu ST, Xiao ZY, Nan H, Yue Y, Zhu XG, Wu Y, ... ... Eichler EE, et al. The Chromosome-based Rubber Tree Genome Provides New Insights into Spurge Genome Evolution and Rubber Biosynthesis. Molecular Plant. PMID 31838037 DOI: 10.1016/J.Molp.2019.10.017  0.445
2019 Vollger MR, Logsdon GA, Audano PA, Sulovari A, Porubsky D, Peluso P, Wenger AM, Concepcion GT, Kronenberg ZN, Munson KM, Baker C, Sanders AD, Spierings DCJ, Lansdorp PM, Surti U, ... ... Eichler EE, et al. Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. Annals of Human Genetics. PMID 31711268 DOI: 10.1111/Ahg.12364  0.428
2019 Wu H, Li H, Bai T, Han L, Ou J, Xun G, Zhang Y, Wang Y, Duan G, Zhao N, Chen B, Du X, Yao M, Zou X, Zhao J, ... ... Eichler EE, et al. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. Clinical Genetics. PMID 31674007 DOI: 10.1111/cge.13665  0.323
2019 Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED, Herault Y, ... ... Eichler EE, et al. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. American Journal of Human Genetics. PMID 31668704 DOI: 10.1016/J.Ajhg.2019.09.023  0.76
2019 Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA, Warren WC, Pollen AA, Chaisson MJP, Eichler EE. Human-specific tandem repeat expansion and differential gene expression during primate evolution. Proceedings of the National Academy of Sciences of the United States of America. PMID 31659027 DOI: 10.1073/Pnas.1912175116  0.756
2019 Hsieh P, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, ... ... Eichler EE, et al. Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. Science (New York, N.Y.). 366. PMID 31624180 DOI: 10.1126/Science.Aax2083  0.671
2019 Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, ... ... Eichler EE, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8  0.521
2019 He Y, Luo X, Zhou B, Hu T, Meng X, Audano PA, Kronenberg ZN, Eichler EE, Jin J, Guo Y, Yang Y, Qi X, Su B. Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants. Nature Communications. 10: 4233. PMID 31530812 DOI: 10.1038/s41467-019-12174-w  0.434
2019 Beighley JS, Hudac CM, Arnett AB, Peterson JL, Gerdts J, Wallace AS, Mefford HC, Hoekzema K, Turner TN, O'Roak BJ, Eichler EE, Bernier RA. Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes. Biological Psychiatry. PMID 31526516 DOI: 10.1016/J.Biopsych.2019.07.020  0.749
2019 Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. Npj Genomic Medicine. 4: 19. PMID 31452935 DOI: 10.1038/S41525-019-0093-8  0.696
2019 Gao LZ, Liu YL, Zhang D, Li W, Gao J, Liu Y, Li K, Shi C, Zhao Y, Zhao YJ, Jiao JY, Mao SY, Gao CW, Eichler EE. Evolution of chloroplast genomes promoted adaptation to diverse ecological habitats. Communications Biology. 2: 278. PMID 31372517 DOI: 10.1038/s42003-019-0531-2  0.366
2019 Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, ... ... Eichler EE, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications. 10: 3094. PMID 31300657 DOI: 10.1038/S41467-019-10910-W  0.497
2019 Eichler EE. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. The New England Journal of Medicine. 381: 64-74. PMID 31269367 DOI: 10.1056/NEJMra1809315  0.316
2019 Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, ... ... Eichler EE, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784. PMID 30992455 DOI: 10.1038/S41467-018-08148-Z  0.835
2019 Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A. Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380: 1421-1432. PMID 30970187 DOI: 10.1056/NEJMoa1706594  0.775
2019 Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. Plos Genetics. 15: e1008075. PMID 30917130 DOI: 10.1371/Journal.Pgen.1008075  0.845
2019 Rogers J, Raveendran M, Harris RA, Mailund T, Leppälä K, Athanasiadis G, Schierup MH, Cheng J, Munch K, Walker JA, Konkel MK, Jordan V, Steely CJ, Beckstrom TO, Bergey C, ... ... Eichler EE, et al. The comparative genomics and complex population history of baboons. Science Advances. 5: eaau6947. PMID 30854422 DOI: 10.1126/Sciadv.Aau6947  0.622
2019 Audano PA, Sulovari A, Graves-Lindsay TA, Cantsilieris S, Sorensen M, Welch AE, Dougherty ML, Nelson BJ, Shah A, Dutcher SK, Warren WC, Magrini V, McGrath SD, Li YI, Wilson RK, ... Eichler EE, et al. Characterizing the Major Structural Variant Alleles of the Human Genome. Cell. PMID 30661756 DOI: 10.1016/J.Cell.2018.12.019  0.493
2019 Ang CE, Ma Q, Wapinski OL, Fan S, Flynn RA, Lee QY, Coe B, Onoguchi M, Olmos VH, Do BT, Dukes-Rimsky L, Xu J, Tanabe K, Wang L, Elling U, ... ... Eichler EE, et al. The novel lncRNA is pro-neurogenic and mutated in human neurodevelopmental disorders. Elife. 8. PMID 30628890 DOI: 10.7554/Elife.41770  0.586
2019 Coe BP, Stessman HAF, Sulovari A, Geisheker MR, Bakken TE, Lake AM, Dougherty JD, Lein ES, Hormozdiari F, Bernier RA, Eichler EE. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Nature Genetics. 51: 106-116. PMID 30559488 DOI: 10.1038/S41588-018-0288-4  0.763
2019 Vollger MR, Dishuck PC, Sorensen M, Welch AE, Dang V, Dougherty ML, Graves-Lindsay TA, Wilson RK, Chaisson MJP, Eichler EE. Long-read sequence and assembly of segmental duplications. Nature Methods. 16: 88-94. PMID 30559433 DOI: 10.1038/s41592-018-0236-3  0.748
2018 Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, ... ... Eichler EE, et al. Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration. Plos One. 13: e0209943. PMID 30571798 DOI: 10.1371/Journal.Pone.0209943  0.766
2018 Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, ... ... Eichler EE, et al. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Molecular Autism. 9: 64. PMID 30564305 DOI: 10.1186/s13229-018-0247-z  0.584
2018 Turner TN, Eichler EE. The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders. Trends in Neurosciences. PMID 30563709 DOI: 10.1016/j.tins.2018.11.002  0.364
2018 Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, ... Eichler EE, et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30504930 DOI: 10.1038/S41436-018-0380-2  0.837
2018 van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, ... ... Eichler E, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30349098 DOI: 10.1038/S41436-018-0330-Z  0.396
2018 Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O, Nowakowski TJ, Pollen AA, Eichler EE. Transcriptional fates of human-specific segmental duplications in brain. Genome Research. PMID 30228200 DOI: 10.1101/Gr.237610.118  0.704
2018 Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, ... ... Eichler EE, et al. Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. Nature Genetics. PMID 30224652 DOI: 10.1038/S41588-018-0199-4  0.805
2018 Tucci S, Vohr SH, McCoy RC, Vernot B, Robinson MR, Barbieri C, Nelson BJ, Fu W, Purnomo GA, Sudoyo H, Eichler EE, Barbujani G, Visscher PM, Akey JM, Green RE. Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia. Science (New York, N.Y.). 361: 511-516. PMID 30072539 DOI: 10.1126/science.aar8486  0.412
2018 Ghareghani M, Porubsk D, Sanders AD, Meiers S, Eichler EE, Korbel JO, Marschall T. Strand-seq enables reliable separation of long reads by chromosome via expectation maximization. Bioinformatics (Oxford, England). 34: i115-i123. PMID 29949971 DOI: 10.1093/bioinformatics/bty290  0.388
2018 Fiddes IT, Armstrong J, Diekhans M, Nachtweide S, Kronenberg ZN, Underwood JG, Gordon D, Earl D, Keane T, Eichler EE, Haussler D, Stanke M, Paten B. Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. Genome Research. PMID 29884752 DOI: 10.1101/Gr.233460.117  0.418
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, ... ... Eichler EE, et al. High-resolution comparative analysis of great ape genomes. Science (New York, N.Y.). 360. PMID 29880660 DOI: 10.1126/Science.Aar6343  0.848
2018 Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, ... ... Eichler EE, et al. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. Cell. 173: 1356-1369.e22. PMID 29856954 DOI: 10.1016/J.Cell.2018.03.051  0.783
2018 Catacchio CR, Maggiolini FAM, D'Addabbo P, Bitonto M, Capozzi O, Signorile ML, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F. Inversion variants in human and primate genomes. Genome Research. PMID 29776991 DOI: 10.1101/Gr.234831.118  0.724
2018 Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, ... ... Eichler EE, et al. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H () gene family. Proceedings of the National Academy of Sciences of the United States of America. PMID 29686068 DOI: 10.1073/Pnas.1717600115  0.369
2018 Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, ... ... Eichler EE, et al. Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. Nature Genetics. PMID 29674745 DOI: 10.1038/S41588-018-0075-2  0.811
2018 Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, ... ... Eichler EE, et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics. PMID 29656860 DOI: 10.1016/J.Ajhg.2018.03.004  0.527
2018 Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, ... ... Eichler EE, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 172: 897-909.e21. PMID 29474918 DOI: 10.1016/J.Cell.2018.02.011  0.305
2018 Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. Longitudinal report of child with de novo 16p11.2 triplication. Clinical Case Reports. 6: 147-154. PMID 29375855 DOI: 10.1002/Ccr3.1236  0.792
2018 Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, ... ... Eichler EE, et al. The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. Nature Genetics. PMID 29358652 DOI: 10.1038/S41588-017-0036-1  0.848
2018 Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, ... Eichler EE, et al. Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Research. 28: 144. PMID 29295848 DOI: 10.1101/Gr.233007.117  0.798
2017 Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, ... ... Eichler EE, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics : Ejhg. PMID 29209020 DOI: 10.1038/S41431-017-0039-5  0.719
2017 Wilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EE. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. Genome Medicine. 9: 101. PMID 29179772 DOI: 10.1186/S13073-017-0498-X  0.641
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, ... ... Eichler EE, 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  0.641
2017 Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes I, Armstrong J, Laayouni H, Gordon D, Huddleston J, Perez RG, Povolotskaya I, Armero AS, Garrido JG, Ho D, Ribeca P, ... ... Eichler EE, et al. A 3-way hybrid approach to generate a new high quality chimpanzee reference genome (Pan_tro_3.0). Gigascience. PMID 29092041 DOI: 10.1093/Gigascience/Gix098  0.826
2017 Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, et al. Prospective investigation of FOXP1 syndrome. Molecular Autism. 8: 57. PMID 29090079 DOI: 10.1186/S13229-017-0172-6  0.509
2017 Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Molecular Autism. 8: 54. PMID 29034068 DOI: 10.1186/S13229-017-0173-5  0.523
2017 Prüfer K, de Filippo C, Grote S, Mafessoni F, Korlević P, Hajdinjak M, Vernot B, Skov L, Hsieh P, Peyrégne S, Reher D, Hopfe C, Nagel S, Maricic T, Fu Q, ... ... Eichler EE, et al. A high-coverage Neandertal genome from Vindija Cave in Croatia. Science (New York, N.Y.). PMID 28982794 DOI: 10.1126/Science.Aao1887  0.434
2017 Turner TN, Coe BP, Dickel DE, Hoekzema K, Nelson BJ, Zody MC, Kronenberg ZN, Hormozdiari F, Raja A, Pennacchio LA, Darnell RB, Eichler EE. Genomic Patterns of De Novo Mutation in Simplex Autism. Cell. PMID 28965761 DOI: 10.1016/J.Cell.2017.08.047  0.775
2017 Ventura M, Catacchio CR, Sajjadian S, Vives L, Sudmant PH, Marques-Bonet T, Graves TA, Wilson RK, Eichler EE. Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Research. 27: 1621.1. PMID 28864551 DOI: 10.1101/Gr.226878.117  0.728
2017 Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, ... ... Eichler EE, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1: 69. PMID 28812736 DOI: 10.1038/s41559-016-0069  0.862
2017 Chaisson MJ, Mukherjee S, Kannan S, Eichler EE. Resolving multicopy duplications de novo using polyploid phasing. Research in Computational Molecular Biology : ... Annual International Conference, Recomb ... : Proceedings. Recomb (Conference : 2005-). 10229: 117-133. PMID 28808695 DOI: 10.1007/978-3-319-56970-3_8  0.656
2017 Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, ... ... Eichler EE, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience. PMID 28628100 DOI: 10.1038/Nn.4589  0.541
2017 Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, ... ... Eichler EE, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1. PMID 28580430 DOI: 10.1038/S41559-016-0069  0.859
2017 Xia EH, Yang DR, Jiang JJ, Zhang QJ, Liu Y, Liu YL, Zhang Y, Zhang HB, Shi C, Tong Y, Kim C, Chen H, Peng YQ, Yu Y, Zhang W, ... Eichler EE, et al. The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity. Scientific Reports. 7: 1806. PMID 28496210 DOI: 10.1038/s41598-017-01869-z  0.343
2017 Xia EH, Zhang HB, Sheng J, Li K, Zhang QJ, Kim C, Zhang Y, Liu Y, Zhu T, Li W, Huang H, Tong Y, Nan H, Shi C, Shi C, ... ... Eichler EE, et al. The Tea Tree Genome Provides Insights into Tea Flavor and Independent Evolution of Caffeine Biosynthesis. Molecular Plant. PMID 28473262 DOI: 10.1016/J.Molp.2017.04.002  0.388
2017 Schneider VA, Graves-Lindsay T, Howe K, Bouk N, Chen HC, Kitts PA, Murphy TD, Pruitt KD, Thibaud-Nissen F, Albracht D, Fulton RS, Kremitzki M, Magrini V, Markovic C, McGrath S, ... ... Eichler EE, et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Research. PMID 28396521 DOI: 10.1101/Gr.213611.116  0.685
2017 Chiatante G, Giannuzzi G, Calabrese FM, Eichler EE, Ventura M. Centromere destiny in dicentric chromosomes: New insights from the evolution of human chromosome 2 ancestral centromeric region. Molecular Biology and Evolution. PMID 28333343 DOI: 10.1093/molbev/msx108  0.302
2017 Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, et al. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 28332277 DOI: 10.1002/Ajmg.B.32527  0.558
2017 Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biology. 18: 49. PMID 28279197 DOI: 10.1186/S13059-017-1163-9  0.833
2017 Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, ... ... Eichler EE, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. PMID 28191889 DOI: 10.1038/Ng.3792  0.747
2017 Tolomeo D, Capozzi O, Stanyon RR, Archidiacono N, D'Addabbo P, Catacchio CR, Purgato S, Perini G, Schempp W, Huddleston J, Malig M, Eichler EE, Rocchi M. Epigenetic origin of evolutionary novel centromeres. Scientific Reports. 7: 41980. PMID 28155877 DOI: 10.1038/Srep41980  0.755
2017 Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F, Alkan C. Discovery of large genomic inversions using long range information. Bmc Genomics. 18: 65. PMID 28073353 DOI: 10.1186/S12864-016-3444-1  0.801
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  0.534
2016 Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE. denovo-db: a compendium of human de novo variants. Nucleic Acids Research. PMID 27907889 DOI: 10.1093/Nar/Gkw865  0.771
2016 Huddleston J, Chaisson MJ, Meltz Steinberg K, Warren W, Hoekzema K, Gordon DS, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, ... Eichler EE, et al. Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Research. PMID 27895111 DOI: 10.1101/Gr.214007.116  0.746
2016 Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, ... ... Eichler EE, et al. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nature Communications. 7: 13316. PMID 27824329 DOI: 10.1038/ncomms13316  0.596
2016 Mohajeri K, Cantsilieris S, Huddleston J, Nelson BJ, Coe BP, Campbell CD, Baker C, Harshman L, Munson KM, Kronenberg ZN, Kremitzki M, Raja A, Catacchio CR, Graves TA, Wilson RK, ... ... Eichler EE, et al. Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Genome Research. 26: 1453-1467. PMID 27803192 DOI: 10.1101/gr.211284.116  0.733
2016 Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, ... ... Eichler EE, et al. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nature Communications. 7: 12989. PMID 27708267 DOI: 10.1038/Ncomms12989  0.806
2016 Dennis MY, Eichler EE. Human adaptation and evolution by segmental duplication. Current Opinion in Genetics & Development. 41: 44-52. PMID 27584858 DOI: 10.1016/j.gde.2016.08.001  0.628
2016 Fox K, Johnsen JM, Coe BP, Frazar CD, Reiner AP, Eichler EE, Nickerson DA. Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry. Transfusion. PMID 27580710 DOI: 10.1111/Trf.13797  0.54
2016 Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, ... ... Eichler EE, et al. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. PMID 27487209 DOI: 10.1038/Nature19075  0.855
2016 Shi L, Guo Y, Dong C, Huddleston J, Yang H, Han X, Fu A, Li Q, Li N, Gong S, Lintner KE, Ding Q, Wang Z, Hu J, Wang D, ... ... Eichler EE, et al. Long-read sequencing and de novo assembly of a Chinese genome. Nature Communications. 7: 12065. PMID 27356984 DOI: 10.1038/Ncomms12065  0.429
2016 Mamiya PC, Richards TL, Coe BP, Eichler EE, Kuhl PK. Brain white matter structure and COMT gene are linked to second-language learning in adults. Proceedings of the National Academy of Sciences of the United States of America. PMID 27298360 DOI: 10.1073/pnas.1606602113  0.459
2016 Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E, Eichler EE, et al. Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda, Md.). PMID 27207956 DOI: 10.1534/G3.116.029645  0.77
2016 Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, ... ... Eichler EE, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963  0.65
2016 Huddleston J, Eichler EE. An Incomplete Understanding of Human Genetic Variation. Genetics. 202: 1251-4. PMID 27053122 DOI: 10.1534/genetics.115.180539  0.376
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, ... ... Eichler EE, et al. Long-read sequence assembly of the gorilla genome. Science (New York, N.Y.). 352: aae0344. PMID 27034376 DOI: 10.1126/Science.Aae0344  0.854
2016 Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, ... ... Eichler EE, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004  0.745
2016 Stessman HA, Turner TN, Eichler EE. Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Medicine. 8: 22. PMID 26917491 DOI: 10.1186/s13073-016-0278-z  0.338
2016 Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, et al. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European Journal of Human Genetics : Ejhg. PMID 26757981 DOI: 10.1038/Ejhg.2015.282  0.537
2015 Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, ... ... Eichler EE, et al. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. American Journal of Human Genetics. PMID 26749308 DOI: 10.1016/J.Ajhg.2015.11.023  0.859
2015 Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. American Journal of Human Genetics. PMID 26749307 DOI: 10.1016/J.Ajhg.2015.11.017  0.813
2015 Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, de Leeuw N, Pfundt R, Gilissen C, de Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, et al. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Human Molecular Genetics. PMID 26721934 DOI: 10.1093/Hmg/Ddv618  0.518
2015 Chen J, Huddleston J, Buckley RM, Malig M, Lawhon SD, Skow LC, Lee MO, Eichler EE, Andersson L, Womack JE. Bovine NK-lysin: Copy number variation and functional diversification. Proceedings of the National Academy of Sciences of the United States of America. PMID 26668394 DOI: 10.1073/Pnas.1519374113  0.687
2015 Chaisson MJ, Wilson RK, Eichler EE. Genetic variation and the de novo assembly of human genomes. Nature Reviews. Genetics. 16: 627-40. PMID 26442640 DOI: 10.1038/nrg3933  0.732
2015 Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Eichler EE, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394  0.851
2015 Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Lawson Yuen A, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, ... ... Eichler EE, et al. Recurrent duplications of 17q12 associated with variable phenotypes. American Journal of Medical Genetics. Part A. PMID 26420380 DOI: 10.1002/Ajmg.A.37351  0.551
2015 Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, ... ... Eichler EE, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics : Ejhg. PMID 26306646 DOI: 10.1038/ejhg.2015.178  0.563
2015 Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, ... ... Eichler EE, et al. Global diversity, population stratification, and selection of human copy number variation. Science (New York, N.Y.). PMID 26249230 DOI: 10.1126/Science.Aab3761  0.825
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  0.677
2015 Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE. Excess of rare, inherited truncating mutations in autism. Nature Genetics. 47: 582-8. PMID 25961944 DOI: 10.1038/Ng.3303  0.786
2015 Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, ... ... Eichler EE, et al. Characteristics of de novo structural changes in the human genome. Genome Research. 25: 792-801. PMID 25883321 DOI: 10.1101/Gr.185041.114  0.844
2015 Xue Y, Prado-Martinez J, Sudmant PH, Narasimhan V, Ayub Q, Szpak M, Frandsen P, Chen Y, Yngvadottir B, Cooper DN, de Manuel M, Hernandez-Rodriguez J, Lobon I, Siegismund HR, Pagani L, ... ... Eichler EE, et al. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science (New York, N.Y.). 348: 242-5. PMID 25859046 DOI: 10.1126/Science.Aaa3952  0.782
2015 Duyzend MH, Eichler EE. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". Biological Psychiatry. 77: 769-71. PMID 25843334 DOI: 10.1016/j.biopsych.2015.02.032  0.721
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  0.619
2015 van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, ... ... Eichler EE, et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry. PMID 25707398 DOI: 10.1038/Mp.2015.5  0.669
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  0.746
2015 Mazina V, Gerdts J, Trinh S, Ankenman K, Ward T, Dennis MY, Girirajan S, Eichler EE, Bernier R. Epigenetics of autism-related impairment: copy number variation and maternal infection. Journal of Developmental and Behavioral Pediatrics : Jdbp. 36: 61-7. PMID 25629966 DOI: 10.1097/Dbp.0000000000000126  0.677
2015 Pino-Yanes M, Gignoux CR, Galanter JM, Levin AM, Campbell CD, Eng C, Huntsman S, Nishimura KK, Gourraud PA, Mohajeri K, O'Roak BJ, Hu D, Mathias RA, Nguyen EA, Roth LA, ... ... Eichler EE, et al. Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. The Journal of Allergy and Clinical Immunology. 135: 1502-10. PMID 25488688 DOI: 10.1016/J.Jaci.2014.10.033  0.739
2015 Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. Resolving the complexity of the human genome using single-molecule sequencing. Nature. 517: 608-11. PMID 25383537 DOI: 10.1038/Nature13907  0.854
2015 Hormozdiari F, Penn O, Borenstein E, Eichler EE. The discovery of integrated gene networks for autism and related disorders. Genome Research. 25: 142-54. PMID 25378250 DOI: 10.1101/Gr.178855.114  0.819
2015 Watson CT, Steinberg KM, Graves TA, Warren RL, Malig M, Schein J, Wilson RK, Holt RA, Eichler EE, Breden F. Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity. Genes and Immunity. 16: 24-34. PMID 25338678 DOI: 10.1038/Gene.2014.56  0.823
2015 Vulto-van Silfhout A, Rajamanickam S, Jensik P, Vergult S, de Rocker N, Newhall K, Raghavan R, Reardon S, Jarrett K, McIntyre T, Bulinski J, Ownby S, Huggenvik J, McKnight G, Rose G, ... ... Eichler E, et al. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems The American Journal of Human Genetics. 96: 178. DOI: 10.1016/J.Ajhg.2014.12.019  0.442
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  0.729
2014 Yue F, Cheng Y, Breschi A, Vierstra J, Wu W, Ryba T, Sandstrom R, Ma Z, Davis C, Pope BD, Shen Y, Pervouchine DD, Djebali S, Thurman RE, Kaul R, ... ... Eichler EE, et al. A comparative encyclopedia of DNA elements in the mouse genome. Nature. 515: 355-64. PMID 25409824 DOI: 10.1038/Nature13992  0.377
2014 Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK. Single haplotype assembly of the human genome from a hydatidiform mole. Genome Research. 24: 2066-76. PMID 25373144 DOI: 10.1101/Gr.180893.114  0.697
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, ... ... Eichler EE, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/Nature13908  0.809
2014 Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, ... ... Eichler EE, et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nature Genetics. 46: 1293-302. PMID 25326701 DOI: 10.1038/Ng.3120  0.817
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  0.71
2014 Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, ... ... Eichler EE, et al. Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature. 513: 409-13. PMID 25230663 DOI: 10.1038/Nature13673  0.683
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, ... ... Eichler EE, 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  0.83
2014 Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, ... ... Eichler EE, et al. Gibbon genome and the fast karyotype evolution of small apes. Nature. 513: 195-201. PMID 25209798 DOI: 10.1038/Nature13679  0.797
2014 Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Genomic studies in fragile X premutation carriers. Journal of Neurodevelopmental Disorders. 6: 27. PMID 25170347 DOI: 10.1186/1866-1955-6-27  0.761
2014 Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, ... ... Eichler EE, et al. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166: 315-26. PMID 25169753 DOI: 10.1002/Ajmg.C.31413  0.535
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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, ... ... Eichler EE, 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  0.804
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  0.855
2014 Hoischen A, Krumm N, Eichler EE. Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nature Neuroscience. 17: 764-72. PMID 24866042 DOI: 10.1038/nn.3703  0.753
2014 Hach F, Sarrafi I, Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications. Nucleic Acids Research. 42: W494-500. PMID 24810850 DOI: 10.1093/Nar/Gku370  0.795
2014 Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, ... ... Eichler EE, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics. 94: 649-61. PMID 24726472 DOI: 10.1016/J.Ajhg.2014.03.013  0.488
2014 Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L, Ozdemir E, So HC, Davies RW, Patrice A, Dent R, ... ... Eichler EE, et al. Low copy number of the salivary amylase gene predisposes to obesity. Nature Genetics. 46: 492-7. PMID 24686848 DOI: 10.1038/Ng.2939  0.686
2014 Stong N, Deng Z, Gupta R, Hu S, Paul S, Weiner AK, Eichler EE, Graves T, Fronick CC, Courtney L, Wilson RK, Lieberman PM, Davuluri RV, Riethman H. Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline. Genome Research. 24: 1039-50. PMID 24676094 DOI: 10.1101/Gr.166983.113  0.319
2014 Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. American Journal of Human Genetics. 94: 415-25. PMID 24581740 DOI: 10.1016/j.ajhg.2014.02.001  0.796
2014 Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, ... ... Eichler EE, et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics. 46: 380-4. PMID 24531329 DOI: 10.1038/Ng.2899  0.58
2014 Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, ... ... Eichler EE, et al. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. Human Molecular Genetics. 23: 3316-26. PMID 24474471 DOI: 10.1093/Hmg/Ddu025  0.559
2014 Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. Reconstructing complex regions of genomes using long-read sequencing technology. Genome Research. 24: 688-96. PMID 24418700 DOI: 10.1101/Gr.168450.113  0.849
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  0.808
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  0.804
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, ... ... Eichler EE, et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 505: 43-9. PMID 24352235 DOI: 10.1038/Nature12886  0.787
2014 Dao P, Numanagi? I, Lin YY, Hach F, Karakoc E, Donmez N, Collins C, Eichler EE, Sahinalp SC. ORMAN: optimal resolution of ambiguous RNA-Seq multimappings in the presence of novel isoforms. Bioinformatics (Oxford, England). 30: 644-51. PMID 24130305 DOI: 10.1093/Bioinformatics/Btt591  0.601
2014 McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. Rare copy number variation in cerebral palsy. European Journal of Human Genetics : Ejhg. 22: 40-5. PMID 23695280 DOI: 10.1038/Ejhg.2013.93  0.693
2014 Shendure J, Eichler E, Tabor H, Bamshad M, Nickerson D, Murray J, Specker B, Swanson J, Faustman E. Results of whole-genome analysis from National Children's Study (NCS) Neurotoxicology and Teratology. 43: 78. DOI: 10.1016/J.Ntt.2014.04.011  0.483
2013 Dumont BL, Eichler EE. Signals of historical interlocus gene conversion in human segmental duplications. Plos One. 8: e75949. PMID 24124524 DOI: 10.1371/journal.pone.0075949  0.786
2013 Giannuzzi G, Pazienza M, Huddleston J, Antonacci F, Malig M, Vives L, Eichler EE, Ventura M. Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Research. 23: 1763-73. PMID 24077392 DOI: 10.1101/Gr.156240.113  0.777
2013 Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. Transmission disequilibrium of small CNVs in simplex autism. American Journal of Human Genetics. 93: 595-606. PMID 24035194 DOI: 10.1016/J.Ajhg.2013.07.024  0.834
2013 Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, et al. De novo mutations in epileptic encephalopathies. Nature. 501: 217-21. PMID 23934111 DOI: 10.1038/Nature12439  0.599
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  0.852
2013 Hormozdiari F, Konkel MK, Prado-Martinez J, Chiatante G, Herraez IH, Walker JA, Nelson B, Alkan C, Sudmant PH, Huddleston J, Catacchio CR, Ko A, Malig M, Baker C, ... ... Eichler EE, et al. Rates and patterns of great ape retrotransposition. Proceedings of the National Academy of Sciences of the United States of America. 110: 13457-62. PMID 23884656 DOI: 10.1073/Pnas.1310914110  0.812
2013 Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado-Martinez J, Marques-Bonet T, ... Eichler EE, et al. Evolution and diversity of copy number variation in the great ape lineage. Genome Research. 23: 1373-82. PMID 23825009 DOI: 10.1101/Gr.158543.113  0.865
2013 Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, ... ... Eichler EE, et al. Great ape genetic diversity and population history. Nature. 499: 471-5. PMID 23823723 DOI: 10.1038/Nature12228  0.815
2013 Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C, Morcillo-Suarez C, Alkan C, Hormozdiari F, Raineri E, Estellé J, Fernandez-Callejo M, Valles M, Ritscher L, Schöneberg T, ... ... Eichler EE, et al. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. Bmc Genomics. 14: 363. PMID 23721540 DOI: 10.1186/1471-2164-14-363  0.85
2013 Campbell CD, Eichler EE. Properties and rates of germline mutations in humans. Trends in Genetics : Tig. 29: 575-84. PMID 23684843 DOI: 10.1016/j.tig.2013.04.005  0.574
2013 Chin CS, Alexander DH, Marks P, Klammer AA, Drake J, Heiner C, Clum A, Copeland A, Huddleston J, Eichler EE, Turner SW, Korlach J. Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nature Methods. 10: 563-9. PMID 23644548 DOI: 10.1038/Nmeth.2474  0.363
2013 Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Human Molecular Genetics. 22: 3259-68. PMID 23595882 DOI: 10.1093/Hmg/Ddt180  0.65
2013 Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW. Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. Jama Psychiatry. 70: 582-90. PMID 23553203 DOI: 10.1001/Jamapsychiatry.2013.1195  0.662
2013 Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Response to Benn. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 317-8. PMID 23552452 DOI: 10.1038/gim.2013.20  0.407
2013 Watson CT, Steinberg KM, Huddleston J, Warren RL, Malig M, Schein J, Willsey AJ, Joy JB, Scott JK, Graves TA, Wilson RK, Holt RA, Eichler EE, Breden F. Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. American Journal of Human Genetics. 92: 530-46. PMID 23541343 DOI: 10.1016/J.Ajhg.2013.03.004  0.843
2013 Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, et al. Global increases in both common and rare copy number load associated with autism. Human Molecular Genetics. 22: 2870-80. PMID 23535821 DOI: 10.1093/Hmg/Ddt136  0.65
2013 Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. American Journal of Human Genetics. 92: 221-37. PMID 23375656 DOI: 10.1016/J.Ajhg.2012.12.016  0.838
2013 Lorente-Galdos B, Bleyhl J, Santpere G, Vives L, Ramírez O, Hernandez J, Anglada R, Cooper GM, Navarro A, Eichler EE, Marques-Bonet T. Accelerated exon evolution within primate segmental duplications. Genome Biology. 14: R9. PMID 23360670 DOI: 10.1186/Gb-2013-14-1-R9  0.845
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, ... ... Eichler EE, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/J.Ajhg.2012.12.011  0.653
2013 Mueller M, Barros P, Witherden AS, Roberts AL, Zhang Z, Schaschl H, Yu CY, Hurles ME, Schaffner C, Floto RA, Game L, Steinberg KM, Wilson RK, Graves TA, Eichler EE, et al. Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus. American Journal of Human Genetics. 92: 28-40. PMID 23261299 DOI: 10.1016/J.Ajhg.2012.11.013  0.736
2013 Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 478-81. PMID 23258348 DOI: 10.1038/gim.2012.164  0.586
2013 Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, ... ... Eichler EE, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation. 34: 296-300. PMID 23086778 DOI: 10.1002/Humu.22241  0.541
2013 Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, Mullikin JC, Ventura M, Eichler EE. Evolutionary dynamism of the primate LRRC37 gene family. Genome Research. 23: 46-59. PMID 23064749 DOI: 10.1101/Gr.138842.112  0.81
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, ... ... Eichler EE, 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  0.825
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  0.814
2012 Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, ... ... Eichler EE, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England Journal of Medicine. 367: 1321-31. PMID 22970919 DOI: 10.1056/Nejmoa1200395  0.761
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, ... ... Eichler EE, 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  0.828
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  0.505
2012 Smith JJ, Baker C, Eichler EE, Amemiya CT. Genetic consequences of programmed genome rearrangement. Current Biology : Cb. 22: 1524-9. PMID 22818913 DOI: 10.1016/j.cub.2012.06.028  0.725
2012 Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/Archneurol.2012.54  0.794
2012 Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, ... ... Eichler EE, et al. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nature Genetics. 44: 872-80. PMID 22751100 DOI: 10.1038/Ng.2335  0.79
2012 Prüfer K, Munch K, Hellmann I, Akagi K, Miller JR, Walenz B, Koren S, Sutton G, Kodira C, Winer R, Knight JR, Mullikin JC, Meader SJ, Ponting CP, Lunter G, ... ... Eichler EE, et al. The bonobo genome compared with the chimpanzee and human genomes. Nature. 486: 527-31. PMID 22722832 DOI: 10.1038/Nature11128  0.839
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  0.589
2012 Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/Gr.138115.112  0.847
2012 Coe BP, Girirajan S, Eichler EE. A genetic model for neurodevelopmental disease. Current Opinion in Neurobiology. 22: 829-36. PMID 22560351 DOI: 10.1016/J.Conb.2012.04.007  0.722
2012 Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, ... Eichler EE, et al. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell. 149: 912-22. PMID 22559943 DOI: 10.1016/J.Cell.2012.03.033  0.846
2012 Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE, Portman MA. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. American Journal of Medical Genetics. Part A. 158: 1279-84. PMID 22529060 DOI: 10.1002/Ajmg.A.35315  0.768
2012 Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 160: 118-29. PMID 22499536 DOI: 10.1002/Ajmg.C.31327  0.735
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, ... ... Eichler EE, 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  0.821
2012 Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. American Journal of Human Genetics. 90: 599-613. PMID 22482802 DOI: 10.1016/J.Ajhg.2012.02.013  0.867
2012 Ventura M, Catacchio CR, Sajjadian S, Vives L, Sudmant PH, Marques-Bonet T, Graves TA, Wilson RK, Eichler EE. The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Research. 22: 1036-49. PMID 22419167 DOI: 10.1101/Gr.136556.111  0.802
2012 Bekpen C, Tastekin I, Siswara P, Akdis CA, Eichler EE. Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region. Genome Research. 22: 1050-8. PMID 22419166 DOI: 10.1101/gr.134098.111  0.821
2012 Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, ... ... Eichler EE, et al. Insights into hominid evolution from the gorilla genome sequence. Nature. 483: 169-75. PMID 22398555 DOI: 10.1038/Nature10842  0.847
2012 Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. American Journal of Human Genetics. 90: 502-10. PMID 22365152 DOI: 10.1016/J.Ajhg.2012.01.006  0.647
2012 Bickhart DM, Hou Y, Schroeder SG, Alkan C, Cardone MF, Matukumalli LK, Song J, Schnabel RD, Ventura M, Taylor JF, Garcia JF, Van Tassell CP, Sonstegard TS, Eichler EE, Liu GE. Copy number variation of individual cattle genomes using next-generation sequencing. Genome Research. 22: 778-90. PMID 22300768 DOI: 10.1101/Gr.133967.111  0.76
2012 Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, ... ... Eichler EE, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation. 33: 728-40. PMID 22290657 DOI: 10.1002/Humu.22037  0.625
2012 Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, ... ... Eichler EE, et al. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. Journal of Medical Genetics. 49: 110-8. PMID 22180641 DOI: 10.1136/Jmedgenet-2011-100499  0.544
2012 Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. Detection of structural variants and indels within exome data. Nature Methods. 9: 176-8. PMID 22179552 DOI: 10.1038/Nmeth.1810  0.813
2012 Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, et al. Evidence for involvement of GNB1L in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 61-71. PMID 22095694 DOI: 10.1002/Ajmg.B.32002  0.644
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, ... Eichler EE, 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  0.816
2012 Eichler EE. Human genome structural variation and disease Pathology. 44: S30. DOI: 10.1016/S0031-3025(16)32674-5  0.358
2012 Eichler EE. Genome structural variation discovery and genotyping—sequencing versus arrays Pathology. 44: S29. DOI: 10.1016/S0031-3025(16)32667-8  0.331
2011 Girirajan S, Eichler EE. De novo CNVs in bipolar disorder: recurrent themes or new directions? Neuron. 72: 885-7. PMID 22196322 DOI: 10.1016/J.Neuron.2011.12.008  0.594
2011 Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, ... ... Eichler EE, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology. 70: 974-85. PMID 22190369 DOI: 10.1002/Ana.22645  0.595
2011 Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, ... Eichler EE, et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Plos Genetics. 7: e1002334. PMID 22102821 DOI: 10.1371/Journal.Pgen.1002334  0.809
2011 Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia. 52: e194-8. PMID 22050399 DOI: 10.1111/j.1528-1167.2011.03301.x  0.507
2011 Hormozdiari F, Hajirasouliha I, McPherson A, Eichler EE, Sahinalp SC. Simultaneous structural variation discovery among multiple paired-end sequenced genomes. Genome Research. 21: 2203-12. PMID 22048523 DOI: 10.1101/Gr.120501.111  0.852
2011 Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, ... ... Eichler EE, et al. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. Plos One. 6: e25598. PMID 22022419 DOI: 10.1371/Journal.Pone.0025598  0.801
2011 Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, ... ... Eichler EE, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 72: 257-68. PMID 21944779 DOI: 10.1016/J.Neuron.2011.09.010  0.552
2011 Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annual Review of Genetics. 45: 203-26. PMID 21854229 DOI: 10.1146/Annurev-Genet-102209-163544  0.769
2011 Nicholas TJ, Baker C, Eichler EE, Akey JM. A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog. Bmc Genomics. 12: 414. PMID 21846351 DOI: 10.1186/1471-2164-12-414  0.377
2011 Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, ... ... Eichler EE, et al. A copy number variation morbidity map of developmental delay. Nature Genetics. 43: 838-46. PMID 21841781 DOI: 10.1038/Ng.909  0.832
2011 Gazave E, Darré F, Morcillo-Suarez C, Petit-Marty N, Carreño A, Marigorta UM, Ryder OA, Blancher A, Rocchi M, Bosch E, Baker C, Marquès-Bonet T, Eichler EE, Navarro A. Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Research. 21: 1626-39. PMID 21824994 DOI: 10.1101/Gr.117242.110  0.762
2011 Vu TH, Coccaro EF, Eichler EE, Girirajan S. Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 808-16. PMID 21812102 DOI: 10.1002/Ajmg.B.31225  0.737
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, ... ... Eichler EE, et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Research. 21: 1640-9. PMID 21685127 DOI: 10.1101/Gr.124461.111  0.857
2011 Hormozdiari F, Hach F, Sahinalp SC, Eichler EE, Alkan C. Sensitive and fast mapping of di-base encoded reads. Bioinformatics (Oxford, England). 27: 1915-21. PMID 21586516 DOI: 10.1093/Bioinformatics/Btr303  0.817
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, ... Eichler EE, 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  0.822
2011 Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. Population-genetic properties of differentiated human copy-number polymorphisms. American Journal of Human Genetics. 88: 317-32. PMID 21397061 DOI: 10.1016/J.Ajhg.2011.02.004  0.84
2011 Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nature Reviews. Genetics. 12: 363-76. PMID 21358748 DOI: 10.1038/Nrg2958  0.747
2011 Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, ... ... Eichler EE, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470: 59-65. PMID 21293372 DOI: 10.1038/Nature09708  0.849
2011 Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, ... ... Eichler EE, et al. Comparative and demographic analysis of orang-utan genomes. Nature. 469: 529-33. PMID 21270892 DOI: 10.1038/Nature09687  0.851
2011 Hurle B, Marques-Bonet T, Antonacci F, Hughes I, Ryan JF, Eichler EE, Ornitz DM, Green ED. Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. Bmc Evolutionary Biology. 11: 23. PMID 21261979 DOI: 10.1186/1471-2148-11-23  0.779
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 Hormozdiari F, Alkan C, Ventura M, Hajirasouliha I, Malig M, Hach F, Yorukoglu D, Dao P, Bakhshi M, Sahinalp SC, Eichler EE. Alu repeat discovery and characterization within human genomes. Genome Research. 21: 840-9. PMID 21131385 DOI: 10.1101/Gr.115956.110  0.857
2011 Alkan C, Sajjadian S, Eichler EE. Limitations of next-generation genome sequence assembly. Nature Methods. 8: 61-5. PMID 21102452 DOI: 10.1038/Nmeth.1527  0.666
2011 Alkan C, Cardone MF, Catacchio CR, Antonacci F, O'Brien SJ, Ryder OA, Purgato S, Zoli M, Della Valle G, Eichler EE, Ventura M. Genome-wide characterization of centromeric satellites from multiple mammalian genomes. Genome Research. 21: 137-45. PMID 21081712 DOI: 10.1101/Gr.111278.110  0.781
2011 Kitzman JO, MacKenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Erratum: Haplotype-resolved genome sequencing of a Gujarati Indian individual Nature Biotechnology. 29: 459-459. DOI: 10.1038/Nbt0511-459C  0.772
2011 Hormozdiari F, Hajirasouliha I, McPherson A, Eichler EE, Sahinalp SC. Simultaneous structural variation discovery in multiple paired-end sequenced genomes Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 6577: 104-105. DOI: 10.1007/978-3-642-20036-6_11  0.844
2010 Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. Journal of Neurodevelopmental Disorders. 2: 26-38. PMID 21731881 DOI: 10.1007/S11689-009-9037-4  0.59
2010 Reich D, Green RE, Kircher M, Krause J, Patterson N, Durand EY, Viola B, Briggs AW, Stenzel U, Johnson PL, Maricic T, Good JM, Marques-Bonet T, Alkan C, Fu Q, ... ... Eichler EE, et al. Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature. 468: 1053-60. PMID 21179161 DOI: 10.1038/Nature09710  0.738
2010 Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell. 143: 837-47. PMID 21111241 DOI: 10.1016/J.Cell.2010.10.027  0.833
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  0.859
2010 Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. De novo rates and selection of large copy number variation. Genome Research. 20: 1469-81. PMID 20841430 DOI: 10.1101/Gr.107680.110  0.843
2010 Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 641-7. PMID 20808231 DOI: 10.1097/GIM.0b013e3181ef4286  0.558
2010 Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Human Molecular Genetics. 19: R176-87. PMID 20807775 DOI: 10.1093/Hmg/Ddq366  0.696
2010 Bekpen C, Xavier RJ, Eichler EE. Human IRGM gene "to be or not to be". Seminars in Immunopathology. 32: 437-44. PMID 20737271 DOI: 10.1007/s00281-010-0224-x  0.832
2010 Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, ... ... Eichler EE, et al. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genetics. 42: 745-50. PMID 20729854 DOI: 10.1038/Ng.643  0.842
2010 Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. American Journal of Medical Genetics. Part A. 152: 2203-10. PMID 20683987 DOI: 10.1002/Ajmg.A.33557  0.837
2010 Hach F, Hormozdiari F, Alkan C, Hormozdiari F, Birol I, Eichler EE, Sahinalp SC. mrsFAST: a cache-oblivious algorithm for short-read mapping. Nature Methods. 7: 576-7. PMID 20676076 DOI: 10.1038/Nmeth0810-576  0.827
2010 Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV. LINE-1 retrotransposition activity in human genomes. Cell. 141: 1159-70. PMID 20602998 DOI: 10.1016/J.Cell.2010.05.021  0.79
2010 Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM, Kohn S, Runnheim R, Lamers C, Forrest D, Newton MA, ... Eichler EE, et al. High-resolution human genome structure by single-molecule analysis. Proceedings of the National Academy of Sciences of the United States of America. 107: 10848-53. PMID 20534489 DOI: 10.1073/Pnas.0914638107  0.655
2010 Hormozdiari F, Hajirasouliha I, Dao P, Hach F, Yorukoglu D, Alkan C, Eichler EE, Sahinalp SC. Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery. Bioinformatics (Oxford, England). 26: i350-7. PMID 20529927 DOI: 10.1093/Bioinformatics/Btq216  0.833
2010 Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, ... ... Eichler EE, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. Plos Genetics. 6: e1000962. PMID 20502679 DOI: 10.1371/journal.pgen.1000962  0.618
2010 Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, Patterson N, Li H, Zhai W, Fritz MH, Hansen NF, Durand EY, Malaspinas AS, Jensen JD, Marques-Bonet T, ... ... Eichler EE, et al. A draft sequence of the Neandertal genome. Science (New York, N.Y.). 328: 710-22. PMID 20448178 DOI: 10.1126/Science.1188021  0.767
2010 Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, ... ... Eichler EE, et al. Characterization of missing human genome sequences and copy-number polymorphic insertions. Nature Methods. 7: 365-71. PMID 20440878 DOI: 10.1038/Nmeth.1451  0.86
2010 Hajirasouliha I, Hormozdiari F, Alkan C, Kidd JM, Birol I, Eichler EE, Sahinalp SC. Detection and characterization of novel sequence insertions using paired-end next-generation sequencing. Bioinformatics (Oxford, England). 26: 1277-83. PMID 20385726 DOI: 10.1093/Bioinformatics/Btq152  0.849
2010 Warren WC, Clayton DF, Ellegren H, Arnold AP, Hillier LW, Künstner A, Searle S, White S, Vilella AJ, Fairley S, Heger A, Kong L, Ponting CP, Jarvis ED, Mello CV, ... ... Eichler EE, et al. The genome of a songbird. Nature. 464: 757-62. PMID 20360741 DOI: 10.1038/Nature08819  0.543
2010 Liu GE, Hou Y, Zhu B, Cardone MF, Jiang L, Cellamare A, Mitra A, Alexander LJ, Coutinho LL, Dell'Aquila ME, Gasbarre LC, Lacalandra G, Li RW, Matukumalli LK, Nonneman D, ... ... Eichler EE, et al. Analysis of copy number variations among diverse cattle breeds. Genome Research. 20: 693-703. PMID 20212021 DOI: 10.1101/gr.105403.110  0.719
2010 Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, Alkan C, Kidd JM, Sun Y, Drautz DI, Bouffard P, ... ... Eichler EE, et al. Complete Khoisan and Bantu genomes from southern Africa. Nature. 463: 943-7. PMID 20164927 DOI: 10.1038/Nature08795  0.781
2010 Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, ... ... Eichler EE, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534  0.8
2010 Silengo M, Belligni E, Molinatto C, Baldassarre G, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Eyebrow anomalies as a diagnostic sign of genomic disorders. Clinical Genetics. 77: 28-31. PMID 20092588 DOI: 10.1111/J.1399-0004.2009.01347.X  0.704
2010 Hansen S, Eichler EE, Fullerton SM, Carrell D. SPANX gene variation in fertile and infertile males. Systems Biology in Reproductive Medicine. 55: 18-26. PMID 20073942 DOI: 10.3109/19396360903312015  0.331
2010 Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, et al. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. Journal of Medical Genetics. 47: 601-7. PMID 19939853 DOI: 10.1136/Jmg.2009.072348  0.694
2010 Zerr T, Cooper GM, Eichler EE, Nickerson DA. Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics (Oxford, England). 26: 120-2. PMID 19846438 DOI: 10.1093/Bioinformatics/Btp606  0.496
2010 de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, ... ... Eichler EE, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain : a Journal of Neurology. 133: 23-32. PMID 19843651 DOI: 10.1093/Brain/Awp262  0.531
2010 Alkan C, Brudno M, Eichler EE, Kann MG, Sahinalp SC. Personal genomics Pacific Symposium On Biocomputing 2010, Psb 2010. 302-304.  0.597
2009 Liu GE, Ventura M, Cellamare A, Chen L, Cheng Z, Zhu B, Li C, Song J, Eichler EE. Analysis of recent segmental duplications in the bovine genome. Bmc Genomics. 10: 571. PMID 19951423 DOI: 10.1186/1471-2164-10-571  0.638
2009 Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, ... ... Eichler EE, et al. Finding the missing heritability of complex diseases. Nature. 461: 747-53. PMID 19812666 DOI: 10.1038/Nature08494  0.317
2009 Marques-Bonet T, Girirajan S, Eichler EE. The origins and impact of primate segmental duplications. Trends in Genetics : Tig. 25: 443-54. PMID 19796838 DOI: 10.1016/J.Tig.2009.08.002  0.803
2009 Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genetics. 41: 1061-7. PMID 19718026 DOI: 10.1038/Ng.437  0.855
2009 Marques-Bonet T, Eichler EE. The evolution of human segmental duplications and the core duplicon hypothesis. Cold Spring Harbor Symposia On Quantitative Biology. 74: 355-62. PMID 19717539 DOI: 10.1101/Sqb.2009.74.011  0.704
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  0.625
2009 Marques-Bonet T, Ryder OA, Eichler EE. Sequencing primate genomes: what have we learned? Annual Review of Genomics and Human Genetics. 10: 355-86. PMID 19630567 DOI: 10.1146/Annurev.Genom.9.081307.164420  0.677
2009 Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, Sander T, ... Eichler EE, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Human Molecular Genetics. 18: 3626-31. PMID 19592580 DOI: 10.1093/hmg/ddp311  0.531
2009 Smith JJ, Antonacci F, Eichler EE, Amemiya CT. Programmed loss of millions of base pairs from a vertebrate genome. Proceedings of the National Academy of Sciences of the United States of America. 106: 11212-7. PMID 19561299 DOI: 10.1073/Pnas.0902358106  0.796
2009 McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, ... ... Eichler EE, et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Research. 19: 1527-41. PMID 19546169 DOI: 10.1101/Gr.091868.109  0.779
2009 Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research. 19: 1579-85. PMID 19506092 DOI: 10.1101/Gr.094987.109  0.804
2009 Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Current Opinion in Genetics & Development. 19: 196-204. PMID 19477115 DOI: 10.1016/j.gde.2009.04.003  0.63
2009 Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, ... ... Eichler EE, et al. Lineage-specific biology revealed by a finished genome assembly of the mouse. Plos Biology. 7: e1000112. PMID 19468303 DOI: 10.1371/Journal.Pbio.1000112  0.678
2009 Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Research. 19: 1270-8. PMID 19447966 DOI: 10.1101/Gr.088633.108  0.844
2009 Cellamare A, Catacchio CR, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler EE, Ventura M. New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. Molecular Biology and Evolution. 26: 1889-900. PMID 19429672 DOI: 10.1093/Molbev/Msp101  0.836
2009 Zhao Y, Marotta M, Eichler EE, Eng C, Tanaka H. Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. Plos Genetics. 5: e1000472. PMID 19424424 DOI: 10.1371/Journal.Pgen.1000472  0.42
2009 Liu GE, Alkan C, Jiang L, Zhao S, Eichler EE. Comparative analysis of Alu repeats in primate genomes. Genome Research. 19: 876-85. PMID 19411604 DOI: 10.1101/Gr.083972.108  0.723
2009 Elsik CG, Tellam RL, Worley KC, Gibbs RA, Muzny DM, Weinstock GM, Adelson DL, Eichler EE, Elnitski L, Guigó R, Hamernik DL, Kappes SM, Lewin HA, Lynn DJ, et al. The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (New York, N.Y.). 324: 522-8. PMID 19390049 DOI: 10.1126/Science.1169588  0.734
2009 Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE. Characterization of six human disease-associated inversion polymorphisms. Human Molecular Genetics. 18: 2555-66. PMID 19383631 DOI: 10.1093/Hmg/Ddp187  0.826
2009 van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, ... ... Eichler EE, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/Jmg.2008.063412  0.645
2009 Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P, Howard JC, Eichler EE. Death and resurrection of the human IRGM gene. Plos Genetics. 5: e1000403. PMID 19266026 DOI: 10.1371/Journal.Pgen.1000403  0.823
2009 Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, ... ... Eichler EE, et al. A burst of segmental duplications in the genome of the African great ape ancestor. Nature. 457: 877-81. PMID 19212409 DOI: 10.1038/Nature07744  0.858
2009 Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics. 84: 148-61. PMID 19166990 DOI: 10.1016/J.Ajhg.2008.12.014  0.836
2009 Degenhardt JD, de Candia P, Chabot A, Schwartz S, Henderson L, Ling B, Hunter M, Jiang Z, Palermo RE, Katze M, Eichler EE, Ventura M, Rogers J, Marx P, Gilad Y, et al. Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). Plos Genetics. 5: e1000346. PMID 19165326 DOI: 10.1371/Journal.Pgen.1000346  0.482
2009 Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, et al. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Human Molecular Genetics. 18: 1200-8. PMID 19139049 DOI: 10.1093/Hmg/Ddp014  0.586
2009 Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, ... ... Eichler EE, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics. 41: 160-2. PMID 19136953 DOI: 10.1038/ng.292  0.619
2009 Nicholas TJ, Cheng Z, Ventura M, Mealey K, Eichler EE, Akey JM. The genomic architecture of segmental duplications and associated copy number variants in dogs. Genome Research. 19: 491-9. PMID 19129542 DOI: 10.1101/Gr.084715.108  0.469
2009 Girirajan S, Chen L, Graves T, Marques-Bonet T, Ventura M, Fronick C, Fulton L, Rocchi M, Fulton RS, Wilson RK, Mardis ER, Eichler EE. Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. Genome Research. 19: 178-90. PMID 19029537 DOI: 10.1101/Gr.086041.108  0.787
2009 Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, ... Eichler EE, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Journal of Medical Genetics. 46: 223-32. PMID 18550696 DOI: 10.1136/jmg.2007.055202  0.759
2009 Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Nazareth LV, Muzny DM, Alkan C, Aksay G, Girirajan S, ... ... Eichler EE, et al. A burst of segmental duplications in the genome of the African great ape ancestor Nature. 458: 238. DOI: 10.1038/nature07881  0.829
2009 Nicholas TJ, Cheng Z, Mealey KL, Eichler EE, Akey JM. The genomic architecture of segmental duplications and copy number variants in dogs Journal of Veterinary Behavior. 4: 71-72. DOI: 10.1016/J.Jveb.2008.09.037  0.389
2009 Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. Combinatorial algorithms for structural variation detection in high throughput sequenced genomes Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 5541: 218-219. DOI: 10.1007/978-3-642-02008-7_16  0.817
2008 Bailey JA, Kidd JM, Eichler EE. Human copy number polymorphic genes. Cytogenetic and Genome Research. 123: 234-43. PMID 19287160 DOI: 10.1159/000184713  0.766
2008 Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, ... ... Eichler EE, et al. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nature Genetics. 40: 1076-83. PMID 19165922 DOI: 10.1038/Ng.193  0.799
2008 Lomiento M, Jiang Z, D'Addabbo P, Eichler EE, Rocchi M. Evolutionary-new centromeres preferentially emerge within gene deserts. Genome Biology. 9: R173. PMID 19087244 DOI: 10.1186/Gb-2008-9-12-R173  0.543
2008 Kidd JM, Cheng Z, Graves T, Fulton B, Wilson RK, Eichler EE. Haplotype sorting using human fosmid clone end-sequence pairs. Genome Research. 18: 2016-23. PMID 18836033 DOI: 10.1101/Gr.081786.108  0.688
2008 Varki A, Geschwind DH, Eichler EE. Explaining human uniqueness: genome interactions with environment, behaviour and culture. Nature Reviews. Genetics. 9: 749-63. PMID 18802414 DOI: 10.1038/Nrg2428  0.369
2008 Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, ... ... Eichler EE, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384  0.807
2008 Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nature Genetics. 40: 1199-203. PMID 18776910 DOI: 10.1038/Ng.236  0.679
2008 Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, Eichler EE, Carter NP, Lee C, Redon R. Copy number variation and evolution in humans and chimpanzees. Genome Research. 18: 1698-710. PMID 18775914 DOI: 10.1101/Gr.082016.108  0.682
2008 Marques-Bonet T, Cheng Z, She X, Eichler EE, Navarro A. The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements. Bmc Genomics. 9: 384. PMID 18699995 DOI: 10.1186/1471-2164-9-384  0.801
2008 Eichler E. Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier. Plos Genetics. 4: e1000124. PMID 18654618 DOI: 10.1371/Journal.Pgen.1000124  0.494
2008 Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, ... ... Eichler EE, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. 45: 710-20. PMID 18628315 DOI: 10.1136/Jmg.2008.058701  0.559
2008 Martin J, Knight SJ, Sharp AJ, Eichler EE, Hurst J, Kini U. Potocki-Lupski syndrome mimicking a connective tissue disorder. Clinical Dysmorphology. 17: 211-3. PMID 18541972 DOI: 10.1097/MCD.0b013e328303b9c2  0.368
2008 Jiang Z, Hubley R, Smit A, Eichler EE. DupMasker: a tool for annotating primate segmental duplications. Genome Research. 18: 1362-8. PMID 18502942 DOI: 10.1101/Gr.078477.108  0.627
2008 She X, Cheng Z, Zöllner S, Church DM, Eichler EE. Mouse segmental duplication and copy number variation. Nature Genetics. 40: 909-14. PMID 18500340 DOI: 10.1038/Ng.172  0.648
2008 Warren WC, Hillier LW, Marshall Graves JA, Birney E, Ponting CP, Grützner F, Belov K, Miller W, Clarke L, Chinwalla AT, Yang SP, Heger A, Locke DP, Miethke P, Waters PD, ... ... Eichler EE, et al. Genome analysis of the platypus reveals unique signatures of evolution. Nature. 453: 175-83. PMID 18464734 DOI: 10.1038/Nature06936  0.739
2008 Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, ... ... Eichler EE, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/Nature06862  0.864
2008 Kirsch S, Münch C, Jiang Z, Cheng Z, Chen L, Batz C, Eichler EE, Schempp W. Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions. Genome Research. 18: 1030-42. PMID 18445620 DOI: 10.1101/Gr.076711.108  0.561
2008 Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, ... ... Eichler EE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, N.Y.). 320: 539-43. PMID 18369103 DOI: 10.1126/Science.1155174  0.477
2008 Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, ... ... Eichler EE, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics. 40: 322-8. PMID 18278044 DOI: 10.1038/Ng.93  0.735
2008 Cardone MF, Jiang Z, D'Addabbo P, Archidiacono N, Rocchi M, Eichler EE, Ventura M. Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biology. 9: R28. PMID 18257913 DOI: 10.1186/Gb-2008-9-2-R28  0.558
2008 Bovee D, Zhou Y, Haugen E, Wu Z, Hayden HS, Gillett W, Tuzun E, Cooper GM, Sampas N, Phelps K, Levy R, Morrison VA, Sprague J, Jewett D, Buckley D, ... ... Eichler EE, et al. Closing gaps in the human genome with fosmid resources generated from multiple individuals. Nature Genetics. 40: 96-101. PMID 18157130 DOI: 10.1038/Ng.2007.34  0.612
2008 Warren WC, Hillier LW, Marshall Graves JA, Birney E, Ponting CP, Grützner F, Belov K, Miller W, Clarke L, Chinwalla AT, Yang SP, Heger A, Locke DP, Miethke P, Waters PD, ... ... Eichler EE, et al. Genome analysis of the platypus reveals unique signatures of evolution (Nature (2008) 453, (175-183)) Nature. 455: 256. DOI: 10.1038/Nature07253  0.698
2007 Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. American Journal of Human Genetics. 81: 1057-69. PMID 17924346 DOI: 10.1086/522591  0.725
2007 Jiang Z, Tang H, Ventura M, Cardone MF, Marques-Bonet T, She X, Pevzner PA, Eichler EE. Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nature Genetics. 39: 1361-8. PMID 17922013 DOI: 10.1038/Ng.2007.9  0.806
2007 Alkan C, Ventura M, Archidiacono N, Rocchi M, Sahinalp SC, Eichler EE. Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data. Plos Computational Biology. 3: 1807-18. PMID 17907796 DOI: 10.1371/Journal.Pcbi.0030181  0.656
2007 Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, ... ... Eichler EE, et al. Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Research. 17: 1690-6. PMID 17895424 DOI: 10.1101/Gr.6675307  0.656
2007 Sharp AJ, Itsara A, Cheng Z, Alkan C, Schwartz S, Eichler EE. Optimal design of oligonucleotide microarrays for measurement of DNA copy-number. Human Molecular Genetics. 16: 2770-9. PMID 17725982 DOI: 10.1093/Hmg/Ddm234  0.837
2007 Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L. Challenges and standards in integrating surveys of structural variation. Nature Genetics. 39: S7-15. PMID 17597783 DOI: 10.1038/Ng2093  0.346
2007 Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nature Genetics. 39: S22-9. PMID 17597777 DOI: 10.1038/Ng2054  0.625
2007 Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161A  0.446
2007 Kidd JM, Newman TL, Tuzun E, Kaul R, Eichler EE. Population stratification of a common APOBEC gene deletion polymorphism. Plos Genetics. 3: e63. PMID 17447845 DOI: 10.1371/Journal.Pgen.0030063  0.628
2007 Ventura M, Antonacci F, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M. Evolutionary formation of new centromeres in macaque. Science (New York, N.Y.). 316: 243-6. PMID 17431171 DOI: 10.1126/Science.1140615  0.654
2007 Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, et al. Evolutionary and biomedical insights from the rhesus macaque genome. Science (New York, N.Y.). 316: 222-34. PMID 17431167 DOI: 10.1126/Science.1139247  0.694
2007 Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, ... ... Eichler EE, et al. Characterization of a recurrent 15q24 microdeletion syndrome. Human Molecular Genetics. 16: 567-72. PMID 17360722 DOI: 10.1093/Hmg/Ddm016  0.574
2007 Roberto R, Capozzi O, Wilson RK, Mardis ER, Lomiento M, Tuzun E, Cheng Z, Mootnick AR, Archidiacono N, Rocchi M, Eichler EE. Molecular refinement of gibbon genome rearrangements. Genome Research. 17: 249-57. PMID 17185643 DOI: 10.1101/gr.6052507  0.435
2007 Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, Lam WL. A comprehensive analysis of common copy-number variations in the human genome. American Journal of Human Genetics. 80: 91-104. PMID 17160897 DOI: 10.1086/510560  0.485
2006 Johnson ME, Cheng Z, Morrison VA, Scherer S, Ventura M, Gibbs RA, Green ED, Eichler EE. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proceedings of the National Academy of Sciences of the United States of America. 103: 17626-31. PMID 17101969 DOI: 10.1073/Pnas.0605426103  0.516
2006 Cardone MF, Alonso A, Pazienza M, Ventura M, Montemurro G, Carbone L, de Jong PJ, Stanyon R, D'Addabbo P, Archidiacono N, She X, Eichler EE, Warburton PE, Rocchi M. Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs. Genome Biology. 7: R91. PMID 17040560 DOI: 10.1186/Gb-2006-7-10-R91  0.581
2006 Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, ... ... Eichler EE, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nature Genetics. 38: 1038-42. PMID 16906162 DOI: 10.1038/Ng1862  0.601
2006 Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. American Journal of Human Genetics. 79: 275-90. PMID 16826518 DOI: 10.1086/505653  0.784
2006 Sharp AJ, Cheng Z, Eichler EE. Structural variation of the human genome. Annual Review of Genomics and Human Genetics. 7: 407-42. PMID 16780417 DOI: 10.1146/annurev.genom.7.080505.115618  0.617
2006 Bailey JA, Eichler EE. Primate segmental duplications: crucibles of evolution, diversity and disease. Nature Reviews. Genetics. 7: 552-64. PMID 16770338 DOI: 10.1038/Nrg1895  0.639
2006 Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, Cáceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, Stone AC, Lee C. Hotspots for copy number variation in chimpanzees and humans. Proceedings of the National Academy of Sciences of the United States of America. 103: 8006-11. PMID 16702545 DOI: 10.1073/Pnas.0602318103  0.448
2006 She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M, Green ED, Archidiacano N, Eichler EE. A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Research. 16: 576-83. PMID 16606706 DOI: 10.1101/Gr.4949406  0.741
2006 Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, ... ... Eichler EE, et al. Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 440: 671-5. PMID 16572171 DOI: 10.1038/Nature04601  0.798
2006 Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, ... ... Eichler E, et al. Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 440: 497-500. PMID 16554811 DOI: 10.1038/Nature04632  0.679
2006 Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. High-throughput genotyping of intermediate-size structural variation. Human Molecular Genetics. 15: 1159-67. PMID 16497726 DOI: 10.1093/Hmg/Ddl031  0.638
2005 Newman TL, Tuzun E, Morrison VA, Hayden KE, Ventura M, McGrath SD, Rocchi M, Eichler EE. A genome-wide survey of structural variation between human and chimpanzee. Genome Research. 15: 1344-56. PMID 16169929 DOI: 10.1101/gr.4338005  0.711
2005 Cheng Z, Ventura M, She X, Khaitovich P, Graves T, Osoegawa K, Church D, DeJong P, Wilson RK, Pääbo S, Rocchi M, Eichler EE. A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature. 437: 88-93. PMID 16136132 DOI: 10.1038/Nature04000  0.662
2005 Alkan C, Tüzün E, Buard J, Lethiec F, Eichler EE, Bailey JA, Sahinalp SC. Manipulating multiple sequence alignments via MaM and WebMaM. Nucleic Acids Research. 33: W295-8. PMID 15980474 DOI: 10.1093/Nar/Gki406  0.716
2005 Horvath JE, Gulden CL, Vallente RU, Eichler MY, Ventura M, McPherson JD, Graves TA, Wilson RK, Schwartz S, Rocchi M, Eichler EE. Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Research. 15: 914-27. PMID 15965031 DOI: 10.1101/gr.3916405  0.698
2005 Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE. Segmental duplications and copy-number variation in the human genome. American Journal of Human Genetics. 77: 78-88. PMID 15918152 DOI: 10.1086/431652  0.844
2005 Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. Fine-scale structural variation of the human genome. Nature Genetics. 37: 727-32. PMID 15895083 DOI: 10.1038/Ng1562  0.724
2005 Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, ... ... Eichler EE, et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 434: 724-31. PMID 15815621 DOI: 10.1038/Nature03466  0.615
2005 Yohn CT, Jiang Z, McGrath SD, Hayden KE, Khaitovich P, Johnson ME, Eichler MY, McPherson JD, Zhao S, Pääbo S, Eichler EE. Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans. Plos Biology. 3: e110. PMID 15737067 DOI: 10.1371/Journal.Pbio.0030110  0.765
2005 Kirsch S, Weiss B, Miner TL, Waterston RH, Clark RA, Eichler EE, Münch C, Schempp W, Rappold G. Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. Genome Research. 15: 195-204. PMID 15653831 DOI: 10.1101/gr.3302705  0.44
2005 Locke DP, Jiang Z, Pertz LM, Misceo D, Archidiacono N, Eichler EE. Molecular evolution of the human chromosome 15 pericentromeric region. Cytogenetic and Genome Research. 108: 73-82. PMID 15545718 DOI: 10.1159/000080804  0.769
2005 Eichler EE. 15: Structural variation of the human genome European Journal of Medical Genetics. 48: 477. DOI: 10.1016/j.ejmg.2005.10.048  0.374
2004 Alkan C, Eichler EE, Bailey JA, Sahinalp SC, Tüzün E. The role of unequal crossover in alpha-satellite DNA evolution: a computational analysis. Journal of Computational Biology : a Journal of Computational Molecular Cell Biology. 11: 933-44. PMID 15700410 DOI: 10.1089/Cmb.2004.11.933  0.651
2004 Sahinalp SC, Eichler E, Goldberg P, Berenbrink P, Friedetzky T, Ergun F. Identifying uniformly mutated segments within repeats. Journal of Bioinformatics and Computational Biology. 2: 657-68. PMID 15617159 DOI: 10.1142/S0219720004000788  0.439
2004 Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, ... ... Eichler EE, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature. 432: 988-94. PMID 15616553 DOI: 10.1038/Nature03187  0.732
2004 She X, Jiang Z, Clark RA, Liu G, Cheng Z, Tuzun E, Church DM, Sutton G, Halpern AL, Eichler EE. Shotgun sequence assembly and recent segmental duplications within the human genome. Nature. 431: 927-30. PMID 15496912 DOI: 10.1038/Nature03062  0.774
2004 Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, ... ... Eichler EE, et al. The DNA sequence and comparative analysis of human chromosome 5. Nature. 431: 268-74. PMID 15372022 DOI: 10.1038/Nature02919  0.642
2004 Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Björck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M. Recurrent sites for new centromere seeding. Genome Research. 14: 1696-703. PMID 15342555 DOI: 10.1101/Gr.2608804  0.56
2004 She X, Horvath JE, Jiang Z, Liu G, Furey TS, Christ L, Clark R, Graves T, Gulden CL, Alkan C, Bailey JA, Sahinalp C, Rocchi M, Haussler D, Wilson RK, ... ... Eichler EE, et al. The structure and evolution of centromeric transition regions within the human genome. Nature. 430: 857-64. PMID 15318213 DOI: 10.1038/Nature02806  0.841
2004 Khaitovich P, Muetzel B, She X, Lachmann M, Hellmann I, Dietzsch J, Steigele S, Do HH, Weiss G, Enard W, Heissig F, Arendt T, Nieselt-Struwe K, Eichler EE, Pääbo S. Regional patterns of gene expression in human and chimpanzee brains. Genome Research. 14: 1462-73. PMID 15289471 DOI: 10.1101/Gr.2538704  0.543
2004 Chen DC, Saarela J, Clark RA, Miettinen T, Chi A, Eichler EE, Peltonen L, Palotie A. Segmental duplications flank the multiple sclerosis locus on chromosome 17q. Genome Research. 14: 1483-92. PMID 15256512 DOI: 10.1101/Gr.2340804  0.369
2004 Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ. Complex SNP-related sequence variation in segmental genome duplications. Nature Genetics. 36: 861-6. PMID 15247918 DOI: 10.1038/ng1401  0.388
2004 Eichler EE, Clark RA, She X. An assessment of the sequence gaps: unfinished business in a finished human genome. Nature Reviews. Genetics. 5: 345-54. PMID 15143317 DOI: 10.1038/Nrg1322  0.664
2004 Bailey JA, Church DM, Ventura M, Rocchi M, Eichler EE. Analysis of segmental duplications and genome assembly in the mouse. Genome Research. 14: 789-801. PMID 15123579 DOI: 10.1101/Gr.2238404  0.626
2004 Tuzun E, Bailey JA, Eichler EE. Recent segmental duplications in the working draft assembly of the brown Norway rat. Genome Research. 14: 493-506. PMID 15059990 DOI: 10.1101/Gr.1907504  0.622
2004 Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE. Hotspots of mammalian chromosomal evolution. Genome Biology. 5: R23. PMID 15059256 DOI: 10.1186/Gb-2004-5-4-R23  0.644
2004 Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, ... ... Eichler EE, et al. The DNA sequence and biology of human chromosome 19. Nature. 428: 529-35. PMID 15057824 DOI: 10.1038/Nature02399  0.61
2004 Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, ... ... Eichler EE, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 428: 493-521. PMID 15057822 DOI: 10.1038/Nature02426  0.813
2004 Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S. Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 81-9. PMID 15017330 DOI: 10.1097/01.Gim.0000117850.04443.C9  0.329
2004 Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. Journal of Medical Genetics. 41: 175-82. PMID 14985376 DOI: 10.1136/Jmg.2003.013813  0.74
2004 Istrail S, Sutton GG, Florea L, Halpern AL, Mobarry CM, Lippert R, Walenz B, Shatkay H, Dew I, Miller JR, Flanigan MJ, Edwards NJ, Bolanos R, Fasulo D, Halldorsson BV, ... ... Eichler EE, et al. Whole-genome shotgun assembly and comparison of human genome assemblies. Proceedings of the National Academy of Sciences of the United States of America. 101: 1916-21. PMID 14769938 DOI: 10.1073/Pnas.0307971100  0.416
2003 Bailey JA, Eichler EE. Genome-wide detection and analysis of recent segmental duplications within mammalian organisms. Cold Spring Harbor Symposia On Quantitative Biology. 68: 115-24. PMID 15338609 DOI: 10.1101/Sqb.2003.68.115  0.552
2003 Eichler EE, Patel NH. Genomes and evolution. From sequence to organism. Current Opinion in Genetics & Development. 13: 559-61. PMID 14638314 DOI: 10.1016/j.gde.2003.10.014  0.363
2003 Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. American Journal of Human Genetics. 73: 898-925. PMID 14508708 DOI: 10.1086/378816  0.727
2003 Bailey JA, Liu G, Eichler EE. An Alu transposition model for the origin and expansion of human segmental duplications. American Journal of Human Genetics. 73: 823-34. PMID 14505274 DOI: 10.1086/378594  0.715
2003 Locke DP, Archidiacono N, Misceo D, Cardone MF, Deschamps S, Roe B, Rocchi M, Eichler EE. Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster. Genome Biology. 4: R50. PMID 12914658 DOI: 10.1186/Gb-2003-4-8-R50  0.756
2003 Eichler EE, Sankoff D. Structural dynamics of eukaryotic chromosome evolution. Science (New York, N.Y.). 301: 793-7. PMID 12907789 DOI: 10.1126/Science.1086132  0.364
2003 Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, ... ... Eichler EE, et al. The DNA sequence of human chromosome 7. Nature. 424: 157-64. PMID 12853948 DOI: 10.1038/Nature01782  0.625
2003 Horvath JE, Gulden CL, Bailey JA, Yohn C, McPherson JD, Prescott A, Roe BA, de Jong PJ, Ventura M, Misceo D, Archidiacono N, Zhao S, Schwartz S, Rocchi M, Eichler EE. Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Molecular Biology and Evolution. 20: 1463-79. PMID 12777517 DOI: 10.1093/Molbev/Msg158  0.762
2003 Liu G, Zhao S, Bailey JA, Sahinalp SC, Alkan C, Tuzun E, Green ED, Eichler EE. Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Research. 13: 358-68. PMID 12618366 DOI: 10.1101/Gr.923303  0.793
2003 Locke DP, Segraves R, Carbone L, Archidiacono N, Albertson DG, Pinkel D, Eichler EE. Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization. Genome Research. 13: 347-57. PMID 12618365 DOI: 10.1101/Gr.1003303  0.762
2003 Guy J, Hearn T, Crosier M, Mudge J, Viggiano L, Koczan D, Thiesen HJ, Bailey JA, Horvath JE, Eichler EE, Earthrowl ME, Deloukas P, French L, Rogers J, Bentley D, et al. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Genome Research. 13: 159-72. PMID 12566394 DOI: 10.1101/Gr.644503  0.75
2002 Alkan C, Bailey JA, Eichler EE, Sahinalp SC, Tuzun E. An algorithmic analysis of the role of unequal crossover in alpha-satellite DNA evolution. Genome Informatics. International Conference On Genome Informatics. 13: 93-102. PMID 14571378 DOI: 10.11234/Gi1990.13.93  0.644
2002 Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science (New York, N.Y.). 297: 1003-7. PMID 12169732 DOI: 10.1126/Science.1072047  0.871
2002 Eichler EE, DeJong PJ. Biomedical applications and studies of molecular evolution: a proposal for a primate genomic library resource. Genome Research. 12: 673-8. PMID 11997334 DOI: 10.1101/gr.250102  0.328
2002 Kashuk C, SenGupta S, Eichler E, Chakravarti A. ViewGene: a graphical tool for polymorphism visualization and characterization. Genome Research. 12: 333-8. PMID 11827953 DOI: 10.1101/Gr.211202  0.444
2002 Samonte RV, Eichler EE. Segmental duplications and the evolution of the primate genome. Nature Reviews. Genetics. 3: 65-72. PMID 11823792 DOI: 10.1038/nrg705  0.848
2002 Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath JE, Archidiacono N, Schwartz S, Rocchi M, Eichler EE. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. American Journal of Human Genetics. 70: 83-100. PMID 11731936 DOI: 10.1086/338458  0.739
2002 van Geel M, Eichler EE, Beck AF, Shan Z, Haaf T, van der Maarel SM, Frants RR, de Jong PJ. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. American Journal of Human Genetics. 70: 269-78. PMID 11731935 DOI: 10.1086/338307  0.468
2001 Eichler EE, Johnson ME, Alkan C, Tuzun E, Sahinalp C, Misceo D, Archidiacono N, Rocchi M. Divergent origins and concerted expansion of two segmental duplications on chromosome 16. The Journal of Heredity. 92: 462-8. PMID 11948212 DOI: 10.1093/Jhered/92.6.462  0.751
2001 Cutler DJ, Zwick ME, Carrasquillo MM, Yohn CT, Tobin KP, Kashuk C, Mathews DJ, Shah NA, Eichler EE, Warrington JA, Chakravarti A. High-throughput variation detection and genotyping using microarrays. Genome Research. 11: 1913-25. PMID 11691856 DOI: 10.1101/Gr.197201  0.313
2001 Horvath JE, Bailey JA, Locke DP, Eichler EE. Lessons from the human genome: transitions between euchromatin and heterochromatin. Human Molecular Genetics. 10: 2215-23. PMID 11673404 DOI: 10.1093/Hmg/10.20.2215  0.854
2001 Eichler EE. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends in Genetics : Tig. 17: 661-9. PMID 11672867  0.32
2001 Johnson ME, Viggiano L, Bailey JA, Abdul-Rauf M, Goodwin G, Rocchi M, Eichler EE. Positive selection of a gene family during the emergence of humans and African apes. Nature. 413: 514-9. PMID 11586358 DOI: 10.1038/35097067  0.633
2001 Mathews DJ, Kashuk C, Brightwell G, Eichler EE, Chakravarti A. Sequence variation within the fragile X locus. Genome Research. 11: 1382-91. PMID 11483579 DOI: 10.1101/Gr.172601  0.404
2001 Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Research. 11: 1005-17. PMID 11381028 DOI: 10.1101/Gr.187101  0.654
2001 Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, ... ... Eichler EE, et al. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature. 409: 953-8. PMID 11237021 DOI: 10.1038/35057192  0.646
2001 Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Eichler EE, et al. Initial sequencing and analysis of the human genome. Nature. 409: 860-921. PMID 11237011 DOI: 10.1038/35057062  0.666
2000 Horvath JE, Schwartz S, Eichler EE. The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome. Genome Research. 10: 839-52. PMID 10854415 DOI: 10.1101/Gr.10.6.839  0.686
2000 Bailey JA, Carrel L, Chakravarti A, Eichler EE. Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proceedings of the National Academy of Sciences of the United States of America. 97: 6634-9. PMID 10841562 DOI: 10.1073/Pnas.97.12.6634  0.491
2000 Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Research. 10: 597-610. PMID 10810082  0.489
2000 Horvath JE, Viggiano L, Loftus BJ, Adams MD, Archidiacono N, Rocchi M, Eichler EE. Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Human Molecular Genetics. 9: 113-23. PMID 10587586 DOI: 10.1093/Hmg/9.1.113  0.607
1999 Eichler EE, Archidiacono N, Rocchi M. CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Research. 9: 1048-58. PMID 10568745  0.469
1999 Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, ... Eichler EE, et al. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics. 60: 295-308. PMID 10493829 DOI: 10.1006/Geno.1999.5927  0.514
1998 Trask BJ, Massa H, Brand-Arpon V, Chan K, Friedman C, Nguyen OT, Eichler E, van den Engh G, Rouquier S, Shizuya H, Giorgi D. Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. Human Molecular Genetics. 7: 2007-20. PMID 9817916 DOI: 10.1093/Hmg/7.13.2007  0.539
1998 Her C, Wood TC, Eichler EE, Mohrenweiser HW, Ramagli LS, Siciliano MJ, Weinshilboum RM. Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene. Genomics. 53: 284-95. PMID 9799594 DOI: 10.1006/geno.1998.5518  0.619
1998 Eichler EE, Hoffman SM, Adamson AA, Gordon LA, McCready P, Lamerdin JE, Mohrenweiser HW. Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12. Genome Research. 8: 791-808. PMID 9724325  0.619
1998 Eichler EE. Masquerading repeats: paralogous pitfalls of the human genome. Genome Research. 8: 758-62. PMID 9724321  0.404
1998 Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 37: 2701-8. PMID 9485421 DOI: 10.1021/Bi972546C  0.331
1997 Fan W, Christensen M, Eichler E, Zhang X, Lennon G. Cloning, sequencing, gene organization, and localization of the human ribosomal protein RPL23A gene. Genomics. 46: 234-9. PMID 9417910 DOI: 10.1006/Geno.1997.5038  0.43
1997 Wagtmann N, Rojo S, Eichler E, Mohrenweiser H, Long EO. A new human gene complex encoding the killer cell inhibitory receptors and related monocyte/macrophage receptors. Current Biology : Cb. 7: 615-8. PMID 9259559 DOI: 10.1016/S0960-9822(06)00263-6  0.6
1997 Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Human Molecular Genetics. 6: 991-1002. PMID 9215666 DOI: 10.1093/hmg/6.7.991  0.698
1997 Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. American Journal of Human Genetics. 60: 103-12. PMID 8981953  0.355
1996 Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Human Molecular Genetics. 5: 319-30. PMID 8852655 DOI: 10.1093/Hmg/5.3.319  0.412
1996 Eichler EE, Nelson DL. Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. American Journal of Medical Genetics. 64: 220-5. PMID 8826480 DOI: 10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M  0.409
1996 Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Human Molecular Genetics. 5: 899-912. PMID 8817324 DOI: 10.1093/Hmg/5.7.899  0.566
1996 Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden JJ, Torroni A, Nelson DL, Warren ST. FMR1 in global populations. American Journal of Human Genetics. 58: 513-22. PMID 8644711  0.404
1995 Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL. Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Human Molecular Genetics. 4: 2199-208. PMID 8634688  0.392
1995 Chastain PD, Eichler EE, Kang S, Nelson DL, Levene SD, Sinden RR. Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry. 34: 16125-31. PMID 8519769 DOI: 10.1021/Bi00049A027  0.385
1995 Eichler EE, Kunst CB, Lugenbeel KA, Ryder OA, Davison D, Warren ST, Nelson DL. Evolution of the cryptic FMR1 CGG repeat. Nature Genetics. 11: 301-8. PMID 7581454 DOI: 10.1038/Ng1195-301  0.424
1994 Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 3: 684-5. PMID 8069329  0.369
1994 Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genetics. 8: 88-94. PMID 7987398 DOI: 10.1038/ng0994-88  0.409
1993 Verkerk AJ, de Graaff E, De Boulle K, Eichler EE, Konecki DS, Reyniers E, Manca A, Poustka A, Willems PJ, Nelson DL. Alternative splicing in the fragile X gene FMR1. Human Molecular Genetics. 2: 399-404. PMID 8504300 DOI: 10.1093/hmg/2.4.399  0.385
1993 Eichler EE, Richards S, Gibbs RA, Nelson DL. Fine structure of the human FMR1 gene. Human Molecular Genetics. 2: 1147-53. PMID 8401496 DOI: 10.1093/Hmg/2.8.1147  0.457
1993 Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nature Genetics. 4: 244-51. PMID 8358432 DOI: 10.1038/Ng0793-244  0.465
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