Lomiento M, Jiang Z, D’Addabbo P, Eichler EE, Rocchi M. (2008). Evolutionary-new centromeres preferentially emerge within gene deserts. Genome Biol Dec 16;9(12):R173.
Blog Archives
Haplotype sorting using human fosmid clone end-sequence pairs
Kidd JM, Cheng Z, Graves T, Wilson R, Eichler EE. (2008). Haplotype sorting using human fosmid clone end-sequence pairs. Genome Res Dec;18(12):2016-23.
Explaining human uniqueness: genome interactions with environment, behaviour and culture
Varki A, Geschwind DH, Eichler EE. (2008). Explaining human uniqueness: genome interactions with environment, behaviour and culture. Nat Rev Genet Oct;9(10):749-63.
Recurrent rearrangements of chromosome 1q21
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Giudice ML, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Raber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med Oct 16;359(16):1685-99.
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. (2008). Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet Oct;40(10):1199-203.
Copy number variation and evolution in humans and chimpanzees
Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, Eichler EE, Carter NP, Lee C, Redon R. (2008). Copy number variation and evolution in humans and chimpanzees. Genome Res Nov;18(11):1698-710.
The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements
Marques-Bonet T, Cheng Z, She X, Eichler EE, Navarro A. (2008). The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements. BMC Genomics Aug 12;9(1):384.
Evolutionary toggling of the MAPT 17q21
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE. (2008). Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet Sep;40(9): 1076-1083.
Clinical and molecular delineation of the 17q21
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet Nov;45(11):710-20.
Potocki-Lupski syndrome mimicking a connective tissue disorder
Martin J, Knight SJ, Sharp AJ, Eichler EE, Hurst J, Kini U. (2008). Potocki-Lupski syndrome mimicking a connective tissue disorder. Clinical Dysmorphology July;17(3):211-213.
DupMasker: A tool for annotating primate segmental duplications
Jiang Z, Hubley R, Smit A, Eichler EE. (2008). DupMasker: A tool for annotating primate segmental duplications. Genome Res Aug;18(8):1362-1368.
Mouse segmental duplication and copy number variation
She X, Cheng Z, Zollner S, Church DM, Eichler EE. (2008). Mouse segmental duplication and copy number variation. Nat Genet Jul;40(7):909-14.