Harvey WT, Ebert P, Ebler J, Audano PA, Munson KM, Hoekzema K, Porubsky D, Beck CR, Marschall T, Garimella K, Eichler EE. (2023). Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall. Genome Res Dec 27;33(12):2029-2040.

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 3rd, Eichler EE, Levine JE, Rogers J. (2023). Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (Callithrix jacchus). Genes (Basel) Dec 7;14(12):2185.

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, Yang R, Fedorov L, Matthews IR, Easow SA, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L. (2023). TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. Nat Commun Dec 7;14(1):8111.

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. (2023). ELOA3: A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster. Sci Adv Nov 24;9(47):eadj1261.

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. (2023). LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification. Sci Adv Nov 3;9(44):eadh9543.

Miga KH, Eichler EE. (2023). Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes. Am J Hum Genet Nov 2;110(11):1832-1840. Review.

Chaisson MJP, Sulovari A, Valdmanis PN, Miller DE, Eichler EE. (2023). Advances in the discovery and analyses of human tandem repeats. Emerg Top Life Sci Dec 14;7(3):361-381.

Paparella A, L’Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. (2023). Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus. Int J Mol Sci Oct 31;24(21):15818.

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, Diekhans M, Flicek P, Formenti G, Fungtammasan A, Garcia Giron C, Garrison E, Gershman A, Gerton JL, Grady PGS, Guarracino A, Haggerty L, Halabian R, Hansen NF, Harris R, Hartley GA, Harvey WT, Haukness M, Heinz J, Hourlier T, Hubley RM, Hunt SE, Hwang S, Jain M, Kesharwani RK, Lewis AP, Li H, Logsdon GA, Lucas JK, Makalowski W, Markovic C, Martin FJ, Mc Cartney AM, McCoy RC, McDaniel J, McNulty BM, Medvedev P, Mikheenko A, Munson KM, Murphy TD, Olsen HE, Olson ND, Paulin LF, Porubsky D, Potapova T, Ryabov F, Salzberg SL, Sauria MEG, Sedlazeck FJ, Shafin K, Shepelev VA, Shumate A, Storer JM, Surapaneni L, Taravella Oill AM, Thibaud-Nissen F, Timp W, Tomaszkiewicz M, Vollger MR, Walenz BP, Watwood AC, Weissensteiner MH, Wenger AM, Wilson MA, Zarate S, Zhu Y, Zook JM, Eichler EE, O’Neill RJ, Schatz MC, Miga KH, Makova KD, Phillippy AM. (2023). The complete sequence of a human Y chromosome. Nature Sep;621(7978):344-354.

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, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K; Human Genome Structural Variation Consortium (HGSVC); O’Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C. (2023). Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature Sep;621(7978):355-364.

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. (2023). Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing. Zool Res Sep 18;44(5):837-847.

Kurtz-Nelson EC, Rea HM, Petriceks AC, Hudac CM, Wang T, Earl RK, Bernier RA, Eichler EE, Neuhaus E. (2023). Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. Autism Res Aug;16(8):1488-1500.