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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: eichler ee. 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: eichler ee. 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.
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: eichler ee. 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.
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Coll-Tané M, Gong NN, Belfer SJ, van Renssen LV, Kurtz-Nelson EC, Szuperak M, Eidhof I, van Reijmersdal B, Terwindt I, Durkin J, Verheij MMM, Kim CN, Hudac CM, Nowakowski TJ, Bernier RA, Pillen S, Earl RK, Eichler EE, Kleefstra T, Kayser MS, Schenck A. Coll-Tané M, et al. Among authors: eichler ee. Sci Adv. 2021 Jun 4;7(23):eabe2626. doi: 10.1126/sciadv.abe2626. Print 2021 Jun. Sci Adv. 2021. PMID: 34088660 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: eichler ee. 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.
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: eichler ee. Genome Biol. 2020 Aug 10;21(1):202. doi: 10.1186/s13059-020-02074-4. Genome Biol. 2020. PMID: 32778141 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: eichler ee. 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.
600 results