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LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.
Garza R, Atacho DAM, Adami A, Gerdes P, Vinod M, Hsieh P, Karlsson O, Horvath V, Johansson PA, Pandiloski N, Matas-Fuentes J, Quaegebeur A, Kouli A, Sharma Y, Jönsson ME, Monni E, Englund E, Eichler EE, Gale Hammell M, Barker RA, Kokaia Z, Douse CH, Jakobsson J. Garza R, et al. Among authors: hsieh p. Sci Adv. 2023 Nov 3;9(44):eadh9543. doi: 10.1126/sciadv.adh9543. Epub 2023 Nov 1. Sci Adv. 2023. PMID: 37910626 Free PMC article.
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development.
Johansson PA, Brattås PL, Douse CH, Hsieh P, Adami A, Pontis J, Grassi D, Garza R, Sozzi E, Cataldo R, Jönsson ME, Atacho DAM, Pircs K, Eren F, Sharma Y, Johansson J, Fiorenzano A, Parmar M, Fex M, Trono D, Eichler EE, Jakobsson J. Johansson PA, et al. Among authors: hsieh p. Cell Stem Cell. 2022 Jan 6;29(1):52-69.e8. doi: 10.1016/j.stem.2021.09.008. Epub 2021 Oct 7. Cell Stem Cell. 2022. PMID: 34624206 Free article.
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B.
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. Plender EG, et al. Among authors: hsieh p. Am J Hum Genet. 2024 Aug 8;111(8):1700-1716. doi: 10.1016/j.ajhg.2024.06.007. Epub 2024 Jul 10. Am J Hum Genet. 2024. PMID: 38991590 Free PMC article.
High-resolution comparative analysis of great ape genomes.
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, Hoekzema K, Qiu R, Clark K, Raja A, Welch AE, Sorensen M, Baker C, Fulton RS, Armstrong J, Graves-Lindsay TA, Denli AM, Hoppe ER, Hsieh P, Hill CM, Pang AWC, Lee J, Lam ET, Dutcher SK, Gage FH, Warren WC, Shendure J, Haussler D, Schneider VA, Cao H, Ventura M, Wilson RK, Paten B, Pollen A, Eichler EE. Kronenberg ZN, et al. Among authors: hsieh p. Science. 2018 Jun 8;360(6393):eaar6343. doi: 10.1126/science.aar6343. Science. 2018. PMID: 29880660 Free PMC article.
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
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, Blanché H, Underwood JG, Antonacci F, Deleuze JF, Eichler EE. Hsieh P, et al. Science. 2019 Oct 18;366(6463):eaax2083. doi: 10.1126/science.aax2083. Science. 2019. PMID: 31624180 Free PMC article.
Recurrent inversion toggling and great ape genome evolution.
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, Korbel JO, Eichler EE. Porubsky D, et al. Among authors: hsieh p. Nat Genet. 2020 Aug;52(8):849-858. doi: 10.1038/s41588-020-0646-x. Epub 2020 Jun 15. Nat Genet. 2020. PMID: 32541924 Free PMC article.
An evolutionary driver of interspersed segmental duplications in primates.
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, Munson KM, Jiang W, Girirajan S, Ventura M, Lamb BT, Conlon RA, Eichler EE. Cantsilieris S, et al. Among authors: hsieh p. Genome Biol. 2020 Aug 10;21(1):202. doi: 10.1186/s13059-020-02074-4. Genome Biol. 2020. PMID: 32778141 Free PMC article.
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
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, Benito E, Zhu Q; Human Genome Structural Variation Consortium (HGSVC); Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO. Porubsky D, et al. Among authors: hsieh p. Cell. 2022 May 26;185(11):1986-2005.e26. doi: 10.1016/j.cell.2022.04.017. Epub 2022 May 6. Cell. 2022. PMID: 35525246 Free PMC article.
Increased mutation and gene conversion within human segmental duplications.
Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M; Human Pangenome Reference Consortium; Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE. Vollger MR, et al. Among authors: hsieh p. Nature. 2023 May;617(7960):325-334. doi: 10.1038/s41586-023-05895-y. Epub 2023 May 10. Nature. 2023. PMID: 37165237 Free PMC article.
1,752 results