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| Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, et al. Nature Genetics. 2025. Cited in Crossref 22 times |
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| A haplotype-resolved view of human gene regulation Mitchell R. Vollger, Elliott G. Swanson, Shane J. Neph, Jane Ranchalis, Katherine M. Munson, Ching-Huang Ho, et al. bioRxiv. 2024. Cited in Crossref 18 times |
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| Increased mutation and gene conversion within human segmental duplications Mitchell R. Vollger, Philip C. Dishuck, William T. Harvey, William S. DeWitt, Xavi Guitart, Michael E. Goldberg, ... Mitchell R. Vollger..., et al. Nature. 2023. Cited in Crossref 81 times |
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| Segmental duplications and their variation in a complete human genome Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, et al. Science. 2022. Cited in Crossref 280 times |
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| StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps Mitchell R. Vollger, Peter Kerpedjiev, Adam M Phillippy, Evan E Eichler. Bioinformatics. 2022. Cited in Crossref 136 times |
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| Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads Mitchell R. Vollger, Glennis A. Logsdon, Peter A. Audano, Arvis Sulovari, David Porubsky, Paul Peluso, et al. Annals of Human Genetics. 2019. Cited in Crossref 114 times |
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| Long-read sequence and assembly of segmental duplications Mitchell R. Vollger, Philip C. Dishuck, Melanie Sorensen, AnneMarie E. Welch, Vy Dang, Max L. Dougherty, et al. Nature Methods. 2018. Cited in Crossref 195 times |
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| DNA-m6A calling and integrated long-read epigenetic and genetic analysis with
fibertools Anupama Jha, Stephanie C. Bohaczuk, Yizi Mao, Jane Ranchalis, Benjamin J. Mallory, Alan T. Min, ... Mitchell R. Vollger. Genome Research. 2024. Cited in Crossref 30 times |
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| Mapping single-cell diploid chromatin fiber architectures using DAF-seq Elliott G. Swanson, Yizi Mao, Benjamin J. Mallory, Mitchell R. Vollger, Stephanie C. Bohaczuk, Christopher B. Oliveira, et al. Nature Biotechnology. 2025. Cited in Crossref 0 times |
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| Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, Katherine M Munson, Mitchell R. Vollger, Elsa Balton, et al. bioRxiv. 2025. Cited in Crossref 0 times |
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| A telomere-to-telomere map of somatic mutation burden and functional impact in cancer Min-Hwan Sohn, Danilo Dubocanin, Mitchell R. Vollger, Youngjun Kwon, Anna Minkina, Katherine M Munson, et al. bioRxiv. 2025. Cited in Crossref 1 times |
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| A complete diploid human genome benchmark for personalized genomics Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji, Arang Rhie, Hailey Loucks, Glennis A. Logsdon, Mitchell R. Vollger, et al. bioRxiv. 2025. Cited in Crossref 5 times |
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| The regulatory potential of transposable elements in maize Kerry L. Bubb, Morgan O. Hamm, Thomas W. Tullius, Joseph K. Min, Bryan Ramirez-Corona, Nicholas A. Mueth, ... Mitchell R. Vollger..., et al. Nature Plants. 2025. Cited in Crossref 4 times |
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| Genetic diversity and regulatory features of human-specific NOTCH2NL duplications Taylor D. Real, Prajna Hebbar, DongAhn Yoo, Francesca Antonacci, Ivana Pačar, Mark Diekhans, ... Mitchell R. Vollger..., et al. bioRxiv. 2025. Cited in Crossref 0 times |
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| Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian Condition Danilo Dubocanin, Anna Kalygina, J. Matthew Franklin, Cy Chittenden, Mitchell R. Vollger, Shane Neph, et al. bioRxiv. 2025. Cited in Crossref 0 times |
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| Resolving the chromatin impact of mosaic variants with targeted Fiber-seq Stephanie C. Bohaczuk, Zachary J. Amador, Chang Li, Benjamin J. Mallory, Elliott G Swanson, Jane Ranchalis, Mitchell R. Vollger, et al. bioRxiv. 2024. Cited in Crossref 1 times |
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| A draft human pangenome reference Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, ... Mitchell R. Vollger..., et al. Nature. 2023. Cited in Crossref 848 times |
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| mutyper: assigning and summarizing mutation types for
analyzing germline mutation spectra William S. DeWitt, Luke Zhu, Mitchell R. Vollger, Michael E. Goldberg, Andrea Talenti, Annabel C. Beichman, et al. Journal of Open Source Software. 2023. Cited in Crossref 6 times |
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| Gaps and complex structurally variant loci in phased genome assemblies David Porubsky, Mitchell R. Vollger, William T. Harvey, Allison N. Rozanski, Peter Ebert, Glenn Hickey, et al. Genome Research. 2023. Cited in Crossref 38 times |
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| A refined characterization of large-scale genomic differences in the first complete human genome Xiangyu Yang, Xuankai Wang, Yawen Zou, Shilong Zhang, Manying Xia, Mitchell R. Vollger, et al. bioRxiv. 2022. Cited in Crossref 2 times |
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| A complete reference genome improves analysis of human genetic variation Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev, ... Mitchell R. Vollger..., et al. Science. 2022. Cited in Crossref 321 times |
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| Complete genomic and epigenetic maps of human centromeres Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina V. Caldas, ... Mitchell R. Vollger..., et al. Science. 2022. Cited in Crossref 468 times |
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| Epigenetic patterns in a complete human genome Ariel Gershman, Michael E. G. Sauria, Xavi Guitart, Mitchell R. Vollger, Paul W. Hook, Savannah J. Hoyt, et al. Science. 2022. Cited in Crossref 237 times |
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| From telomere to telomere: The transcriptional and epigenetic state of human repeat elements Savannah J. Hoyt, Jessica M. Storer, Gabrielle A. Hartley, Patrick G. S. Grady, Ariel Gershman, Leonardo G. de Lima, ... Mitchell R. Vollger..., et al. Science. 2022. Cited in Crossref 313 times |
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| The complete sequence of a human genome Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, et al. Science. 2022. Cited in Crossref 2460 times |
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| Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans PingHsun Hsieh, Vy Dang, Mitchell R. Vollger, Yafei Mao, Tzu-Hsueh Huang, Philip C. Dishuck, et al. Nature Communications. 2021. Cited in Crossref 23 times |
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| The structure, function and evolution of a complete human chromosome 8 Glennis A. Logsdon, Mitchell R. Vollger, PingHsun Hsieh, Yafei Mao, Mikhail A. Liskovykh, Sergey Koren, et al. Nature. 2021. Cited in Crossref 298 times |
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| Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads David Porubsky, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Pierre Marijon, et al. Nature Biotechnology. 2020. Cited in Crossref 162 times |
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| Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility Wesley C. Warren, R. Alan Harris, Marina Haukness, Ian T. Fiddes, Shwetha C. Murali, Jason Fernandes, ... Mitchell R. Vollger..., et al. Science. 2020. Cited in Crossref 146 times |
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| Long-read human genome sequencing and its applications Glennis A. Logsdon, Mitchell R. Vollger, Evan E. Eichler. Nature Reviews Genetics. 2020. Cited in Crossref 938 times |
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| HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads Sergey Nurk, Brian P. Walenz, Arang Rhie, Mitchell R. Vollger, Glennis A. Logsdon, Robert Grothe, et al. Genome Research. 2020. Cited in Crossref 638 times |
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| Telomere-to-telomere assembly of a complete human X chromosome Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell R. Vollger, Ariel Gershman, Andrey Bzikadze, et al. Nature. 2020. Cited in Crossref 626 times |
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| Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes Kishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, Marina Haukness, Hugh E. Olsen, Colleen Bosworth, ... Mitchell R. Vollger..., et al. Nature Biotechnology. 2020. Cited in Crossref 470 times |
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| Human-specific tandem repeat expansion and differential gene expression during primate evolution Arvis Sulovari, Ruiyang Li, Peter A. Audano, David Porubsky, Mitchell R. Vollger, Glennis A. Logsdon, et al. Proceedings of the National Academy of Sciences. 2019. Cited in Crossref 117 times |
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| Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes PingHsun Hsieh, Mitchell R. Vollger, Vy Dang, David Porubsky, Carl Baker, Stuart Cantsilieris, et al. Science. 2019. Cited in Crossref 72 times |
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| Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus Flavia A. M. Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P. Coe, Beth L. Dumont, ... Mitchell R. Vollger..., et al. PLOS Genetics. 2019. Cited in Crossref 22 times |
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This page was last updated on 2025-12-06.