| Year |
Citation |
Score |
| 2024 |
Yılmaz F, Karageorgiou C, Kim K, Pajic P, Scheer K, Beck CR, Torregrossa AM, Lee C, Gokcumen O. Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation. Science (New York, N.Y.). eadn0609. PMID 39418342 DOI: 10.1126/science.adn0609 |
0.345 |
|
| 2024 |
Nesta A, Veiga DFT, Banchereau J, Anczukow O, Beck CR. Alternative splicing of transposable elements in human breast cancer. Biorxiv : the Preprint Server For Biology. PMID 39386569 DOI: 10.1101/2024.09.26.615242 |
0.771 |
|
| 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, ... ... Beck CR, 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 |
0.373 |
|
| 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, ... ... Beck CR, et al. Complete sequencing of ape genomes. Biorxiv : the Preprint Server For Biology. PMID 39131277 DOI: 10.1101/2024.07.31.605654 |
0.326 |
|
| 2024 |
Audano PA, Beck CR. Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement. Genome Research. PMID 38176712 DOI: 10.1101/gr.278203.123 |
0.358 |
|
| 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 |
0.366 |
|
| 2023 |
Yilmaz F, Karageorgiou C, Kim K, Pajic P, Beck CR, Torregrossa AM, Lee C, Gokcumen O. Ancient gene duplications primed the amylase locus for adaptive evolution upon the onset of agriculture. Biorxiv : the Preprint Server For Biology. PMID 38077078 DOI: 10.1101/2023.11.27.568916 |
0.449 |
|
| 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, ... ... Beck CR, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. PMID 37612510 DOI: 10.1038/s41586-023-06425-6 |
0.571 |
|
| 2023 |
Audano PA, Beck CR. Small allelic variants are a source of ancestral bias in structural variant breakpoint placement. Biorxiv : the Preprint Server For Biology. PMID 37425850 DOI: 10.1101/2023.06.25.546295 |
0.502 |
|
| 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 |
0.665 |
|
| 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 |
0.47 |
|
| 2022 |
Balachandran P, Walawalkar IA, Flores JI, Dayton JN, Audano PA, Beck CR. Transposable element-mediated rearrangements are prevalent in human genomes. Nature Communications. 13: 7115. PMID 36402840 DOI: 10.1038/s41467-022-34810-8 |
0.492 |
|
| 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, ... ... Beck CR, 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 |
0.597 |
|
| 2022 |
Danis D, Jacobsen JOB, Balachandran P, Zhu Q, Yilmaz F, Reese J, Haimel M, Lyon GJ, Helbig I, Mungall CJ, Beck CR, Lee C, Smedley D, Robinson PN. SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. Genome Medicine. 14: 44. PMID 35484572 DOI: 10.1186/s13073-022-01046-6 |
0.607 |
|
| 2022 |
Veiga DFT, Nesta A, Zhao Y, Mays AD, Huynh R, Rossi R, Wu TC, Palucka K, Anczukow O, Beck CR, Banchereau J. A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer. Science Advances. 8: eabg6711. PMID 35044822 DOI: 10.1126/sciadv.abg6711 |
0.672 |
|
| 2020 |
Nesta AV, Tafur D, Beck CR. Hotspots of Human Mutation. Trends in Genetics : Tig. 37: 717-729. PMID 33199048 DOI: 10.1016/j.tig.2020.10.003 |
0.694 |
|
| 2020 |
Rebollo R, Galvão-Ferrarini M, Gagnier L, Zhang Y, Ferraj A, Beck CR, Lorincz MC, Mager DL. Inter-Strain Epigenomic Profiling Reveals a Candidate IAP Master Copy in C3H Mice. Viruses. 12. PMID 32708087 DOI: 10.3390/v12070783 |
0.627 |
|
| 2020 |
Balachandran P, Beck CR. Structural variant identification and characterization. Chromosome Research : An International Journal On the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology. 28: 31-47. PMID 31907725 DOI: 10.1007/s10577-019-09623-z |
0.5 |
|
| 2019 |
Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Medicine. 11: 80. PMID 31818324 DOI: 10.1186/S13073-019-0676-0 |
0.558 |
|
| 2019 |
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. PMID 30827684 DOI: 10.1016/J.Cell.2019.01.045 |
0.487 |
|
| 2018 |
Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Research. PMID 29907612 DOI: 10.1101/Gr.229401.117 |
0.473 |
|
| 2018 |
Larson PA, Moldovan JB, Jasti N, Kidd JM, Beck CR, Moran JV. Spliced integrated retrotransposed element (SpIRE) formation in the human genome. Plos Biology. 16: e2003067. PMID 29505568 DOI: 10.1371/Journal.Pbio.2003067 |
0.57 |
|
| 2016 |
Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, et al. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Medicine. 8: 105. PMID 27799067 DOI: 10.1186/S13073-016-0359-Z |
0.399 |
|
| 2016 |
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, ... ... Beck CR, et al. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. The Journal of Allergy and Clinical Immunology. PMID 27577878 DOI: 10.1016/J.Jaci.2016.05.042 |
0.411 |
|
| 2016 |
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine. 8: 3. PMID 26739615 DOI: 10.1186/S13073-015-0253-0 |
0.421 |
|
| 2015 |
Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. Plos Genetics. 11: e1005686. PMID 26641089 DOI: 10.1371/Journal.Pgen.1005686 |
0.543 |
|
| 2015 |
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. American Journal of Human Genetics. 97: 691-707. PMID 26544804 DOI: 10.1016/J.Ajhg.2015.10.003 |
0.533 |
|
| 2015 |
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26378787 DOI: 10.1038/Gim.2015.124 |
0.398 |
|
| 2015 |
Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science (New York, N.Y.). 349: 742-7. PMID 26273056 DOI: 10.1126/Science.Aaa8391 |
0.45 |
|
| 2015 |
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics. 24: 4061-77. PMID 25908615 DOI: 10.1093/Hmg/Ddv146 |
0.508 |
|
| 2015 |
Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. Bmc Genomics. 16: 214. PMID 25887218 DOI: 10.1186/S12864-015-1370-2 |
0.523 |
|
| 2015 |
English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. Bmc Genomics. 16: 286. PMID 25886820 DOI: 10.1186/S12864-015-1479-3 |
0.574 |
|
| 2015 |
Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. Plos Genetics. 11: e1005050. PMID 25749076 DOI: 10.1371/journal.pgen.1005050 |
0.506 |
|
| 2015 |
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation. 125: 636-51. PMID 25574841 DOI: 10.1172/Jci77435 |
0.42 |
|
| 2014 |
Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. Bmc Biology. 12: 74. PMID 25246103 DOI: 10.1186/S12915-014-0074-4 |
0.381 |
|
| 2014 |
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. American Journal of Human Genetics. 95: 143-61. PMID 25065914 DOI: 10.1016/J.Ajhg.2014.06.014 |
0.537 |
|
| 2014 |
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, ... ... Beck CR, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. American Journal of Human Genetics. 95: 96-107. PMID 24931394 DOI: 10.1016/J.Ajhg.2014.05.007 |
0.427 |
|
| 2014 |
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. European Journal of Human Genetics : Ejhg. 22: 1145-8. PMID 24424126 DOI: 10.1038/Ejhg.2013.291 |
0.421 |
|
| 2014 |
Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 386-94. PMID 24136616 DOI: 10.1038/Gim.2013.155 |
0.427 |
|
| 2013 |
Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Human Molecular Genetics. 22: 4698-705. PMID 23847051 DOI: 10.1093/hmg/ddt318 |
0.366 |
|
| 2013 |
Macfarlane CM, Collier P, Rahbari R, Beck CR, Wagstaff JF, Igoe S, Moran JV, Badge RM. Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations. Human Mutation. 34: 974-85. PMID 23553801 DOI: 10.1002/humu.22327 |
0.499 |
|
| 2011 |
Beck CR, Garcia-Perez JL, Badge RM, Moran JV. LINE-1 elements in structural variation and disease. Annual Review of Genomics and Human Genetics. 12: 187-215. PMID 21801021 DOI: 10.1146/annurev-genom-082509-141802 |
0.647 |
|
| 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 |
0.606 |
|
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