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Page 1
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED; 16p11.2 Consortium; Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A. Giannuzzi G, et al. Among authors: munson km. Am J Hum Genet. 2019 Nov 7;105(5):947-958. doi: 10.1016/j.ajhg.2019.09.023. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668704 Free PMC article.
Long-read sequence assembly of the gorilla genome.
Gordon D, Huddleston J, Chaisson MJ, Hill CM, Kronenberg ZN, Munson KM, Malig M, Raja A, Fiddes I, Hillier LW, Dunn C, Baker C, Armstrong J, Diekhans M, Paten B, Shendure J, Wilson RK, Haussler D, Chin CS, Eichler EE. Gordon D, et al. Among authors: munson km. Science. 2016 Apr 1;352(6281):aae0344. doi: 10.1126/science.aae0344. Science. 2016. PMID: 27034376 Free PMC article.
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Mohajeri K, Cantsilieris S, Huddleston J, Nelson BJ, Coe BP, Campbell CD, Baker C, Harshman L, Munson KM, Kronenberg ZN, Kremitzki M, Raja A, Catacchio CR, Graves TA, Wilson RK, Ventura M, Eichler EE. Mohajeri K, et al. Among authors: munson km. Genome Res. 2016 Nov;26(11):1453-1467. doi: 10.1101/gr.211284.116. Epub 2016 Oct 7. Genome Res. 2016. PMID: 27803192 Free PMC article.
Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE. Huddleston J, et al. Among authors: munson km. Genome Res. 2017 May;27(5):677-685. doi: 10.1101/gr.214007.116. Epub 2016 Nov 28. Genome Res. 2017. PMID: 27895111 Free PMC article.
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE. Cantsilieris S, et al. Among authors: munson km. Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23. Proc Natl Acad Sci U S A. 2018. PMID: 29686068 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: munson km. Science. 2018 Jun 8;360(6393):eaar6343. doi: 10.1126/science.aar6343. Science. 2018. PMID: 29880660 Free PMC article.
Transcriptional fates of human-specific segmental duplications in brain.
Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O, Nowakowski TJ, Pollen AA, Eichler EE. Dougherty ML, et al. Among authors: munson km. Genome Res. 2018 Oct;28(10):1566-1576. doi: 10.1101/gr.237610.118. Epub 2018 Sep 18. Genome Res. 2018. PMID: 30228200 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. Among authors: munson km. Science. 2019 Oct 18;366(6463):eaax2083. doi: 10.1126/science.aax2083. Science. 2019. PMID: 31624180 Free PMC article.
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Vollger MR, Logsdon GA, Audano PA, Sulovari A, Porubsky D, Peluso P, Wenger AM, Concepcion GT, Kronenberg ZN, Munson KM, Baker C, Sanders AD, Spierings DCJ, Lansdorp PM, Surti U, Hunkapiller MW, Eichler EE. Vollger MR, et al. Among authors: munson km. Ann Hum Genet. 2020 Mar;84(2):125-140. doi: 10.1111/ahg.12364. Epub 2019 Nov 11. Ann Hum Genet. 2020. PMID: 31711268 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: munson km. Genome Biol. 2020 Aug 10;21(1):202. doi: 10.1186/s13059-020-02074-4. Genome Biol. 2020. PMID: 32778141 Free PMC article.
73 results