Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. (2020). Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res Aug;13(8):1300-1310.
Blog Archives
Recurrent inversion toggling and great ape genome evolution
Porubsky D, Sanders AD, Hops 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. (2020). Recurrent inversion toggling and great ape genome evolution. Nat Genet Aug;52(8):849-858.
Long-read human genome sequencing and its applications
Logsdon GA, Vollger MR, Eichler EE. (2020). Long-read human genome sequencing and its applications. Nat Rev Genet Oct;21(10):597-614. Review.
Insufficient Evidence for “Autism-Specific” Genes
Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. (2020). Insufficient Evidence for “Autism-Specific” Genes. Am J Hum Genet May 7;106(5):587-595.
The Chromosome-Level Reference Genome of Tea Tree Unveils Recent Bursts of Non-autonomous LTR Retrotransposons to Drive Genome Size Evolution
Zhang QJ, Li W, Li K, Nan H, Shi C, Zhang Y, Dai ZY, Lin YL, Yang XL, Tong Y, Zhang D, Lu C, Feng LY, Wang CF, Liu XX, Huang JA, Jiang WK, Wang XH, Zhang XC, Eichler EE, Liu ZH, Gao LZ. (2020). The Chromosome-Level Reference Genome of Tea Tree Unveils Recent Bursts of Non-autonomous LTR Retrotransposons to Drive Genome Size Evolution. Mol Plant Jul 6;13(7):935-938.
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
Maggiolini FAM, Mercuri L, Antonacci F, Anaclerio F, Calabrese FM, Lorusso N, L’Abbate A, Sorensen M, Giannuzzi G, Eichler EE, Catacchio CR, Ventura M. (2020). Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates. Genes Feb 18;11(2). pii: E213.
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson S, Layeghifard M, Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE. (2020). A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo. Nat Genet Feb;52(2):146-159.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. (2020). BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat May;41(5):921-925.
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. (2020). Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1.
The Chromosome-Based Rubber Tree Genome Provides New Insights into Spurge Genome Evolution and Rubber Biosynthesis
Liu J, Shi C, Shi CC, Li W, Zhang QJ, Zhang Y, Li K, Lu HF, Shi C, Zhu ST, Xiao ZY, Nan H, Yue Y, Zhu XG, Wu Y, Hong XN, Fan GY, Tong Y, Zhang D, Mao CL, Liu YL, Hao SJ, Liu WQ, Lv MQ, Zhang HB, Liu Y, Hu-Tang GR, Wang JP, Wang JH, Sun YH, Ni SB, Chen WB, Zhang XC, Jiao YN, Eichler EE, Li GH, Liu X, Gao LZ. (2020). The Chromosome-Based Rubber Tree Genome Provides New Insights into Spurge Genome Evolution and Rubber Biosynthesis. Mol Plant Feb 3;13(2):336-350.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network, Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG), Bamshad MJ. (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med Mar;22(3):538–546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14.
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. (2020). Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. Ann Hum Genet Mar;84(2):125-140. doi: 10.1111/ahg.12364. Epub 2019 Nov 11.
