Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. (2016). De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun Nov 8;7:13316.

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. (2016). Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Genome Res Nov;26(11):1453-1467.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium., Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V. (2016). A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat Commun Oct 6;7:12989. doi: 10.1038/ncomms12989.

Dennis MY, Eichler EE. (2016). Human adaptation and evolution by segmental duplication. Curr Opin Genet Dev Aug 29;41:44-52.

Epi4K Consortium. (2016). De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet Aug 4;99(2):287-98.

Fox K, Johnsen JM, Coe BP, Frazar CD, Reiner AP; NHLBI Exome Sequencing Project, Minority Health-GRID Network, Eichler EE, Nickerson DA. (2016). Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry. Transfusion 56;2744–2749.

Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. (2016). Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature Aug 11;536(7615):205-9.

Shi L, Guo Y, Dong C, Huddleston J, Yang H, Han X, Fu A, Li Q, Li N, Gong S, Lintner KE, Ding Q, Wang Z, Hu J, Wang D, Wang F, Wang L, Lyon GJ, Guan Y, Shen Y, Evgrafov OV, Knowles JA, Thibaud-Nissen F, Schneider V, Yu CY, Zhou L, Eichler EE, So KF, Wang K. (2016). Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun Jun 30;7:12065.

Mamiya PC, Richards TL, Coe BP, Eichler EE, Kuhl PK. (2016). Brain white matter structure and COMT gene are linked to second-language learning in adults. Proc Natl Acad Sci U S A Jun 28;113(26):7249-54.

Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E, Eichler EE, Dalin G, Chowdary B, Anderssson L, Lindgren G, Rubin CJ. (2016). Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda) Jul 7;6(7):2213-23.

Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S, Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA. (2016). De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet Apr 8;12(4):e1005963.

Huddleston J, Eichler EE. (2016). An Incomplete Understanding of Human Genetic Variation. Genetics Apr;202(4):1251-4.