Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Bernier RA, Eichler EE, Xia K. (2018). Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Mol Autism Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018.
Blog Archives
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. (2018). Transcriptional fates of human-specific segmental duplications in brain. Genome Res Oct;28(10):1566-1576.
The autism spectrum phenotype in ADNP syndrome
Arnett AB, Rhoads CL, Hoekzema K, Turner TN, Gerdts J, Wallace AS, Bedrosian-Sermone S, Eichler EE, Bernier RA. (2018). The autism spectrum phenotype in ADNP syndrome. Autism Res Sep;11(9):1300-1310.
Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia
Tucci S, Vohr SH, McCoy RC, Vernot B, Robinson MR, Barbieri C, Nelson BJ, Fu W, Purnomo GA, Sudoyo H, Eichler EE, Barbujani G, Visscher PM, Akey JM, Green RE. (2018). Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia. Science Aug 3;361(6401):511-516. doi: 10.1126/science.aar8486.
Strand-seq enables reliable separation of long reads by chromosome via expectation maximization
Ghareghani M, Porubsky D, Sanders AD, Meiers S, Eichler EE, Korbel JO, Marschall T. (2018). Strand-seq enables reliable separation of long reads by chromosome via expectation maximization. Bioinformatics Jul 1;34(13):i115-i123.
Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation
Fiddes IT, Armstrong J, Diekhans M, Nachtweide S, Kronenberg ZN, Underwood JG, Gordon D, Earl D, Keane T, Eichler EE, Haussler D, Stanke M, Paten B. (2018). Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. Genome Res Jul;28(7):1029-1038.
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. (2018). High-resolution comparative analysis of great ape genomes. Science Jun 8;360(6393). pii: eaar6343. doi: 10.1126/science.aar6343.
Inversion variants in human and primate genomes
Catacchio CR, Maggiolini FAM, D’Addabbo P, Bitonto M, Capozzi O, Signorile ML, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F. (2018). Inversion variants in human and primate genomes. Genome Res Jun;28(6):910-920.
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D. (2018). Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. Cell May 31;173(6):1356-1369.e22.
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. (2018). Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A May 8;115(19):E4433-E4442.
The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, Robb SMC, Baker C, Eichler EE, Hockman D, Sauka-Spengler T, Yandell M, Krumlauf R, Elgar G, Amemiya CT. (2018). The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. Nat Genet Feb;50(2):270-277.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. (2018). Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet May 3;102(5):985-994.
