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Items: 1 to 20 of 3427

1.

Error occurred: cannot get document summary

PMID:
91184134

2.

Error occurred: cannot get document summary

PMID:
90059885

3.

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE.

Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19.

4.

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.

Genovese G, Handsaker RE, Li H, Kenny EE, McCarroll SA.

Am J Hum Genet. 2013 Sep 5;93(3):411-21. doi: 10.1016/j.ajhg.2013.07.002. Epub 2013 Aug 8.

5.

Independent specialization of the human and mouse X chromosomes for the male germ line.

Mueller JL, Skaletsky H, Brown LG, Zaghlul S, Rock S, Graves T, Auger K, Warren WC, Wilson RK, Page DC.

Nat Genet. 2013 Sep;45(9):1083-7. doi: 10.1038/ng.2705. Epub 2013 Jul 21.

6.

Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.

Watson CT, Steinberg KM, Huddleston J, Warren RL, Malig M, Schein J, Willsey AJ, Joy JB, Scott JK, Graves TA, Wilson RK, Holt RA, Eichler EE, Breden F.

Am J Hum Genet. 2013 Apr 4;92(4):530-46. doi: 10.1016/j.ajhg.2013.03.004. Epub 2013 Mar 28.

7.

Using population admixture to help complete maps of the human genome.

Genovese G, Handsaker RE, Li H, Altemose N, Lindgren AM, Chambert K, Pasaniuc B, Price AL, Reich D, Morton CC, Pollak MR, Wilson JG, McCarroll SA.

Nat Genet. 2013 Apr;45(4):406-14, 414e1-2. doi: 10.1038/ng.2565. Epub 2013 Feb 24.

8.

DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution.

Falconer E, Hills M, Naumann U, Poon SS, Chavez EA, Sanders AD, Zhao Y, Hirst M, Lansdorp PM.

Nat Methods. 2012 Nov;9(11):1107-12. doi: 10.1038/nmeth.2206. Epub 2012 Oct 7.

9.

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.

Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013.

10.

Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.

Pyo CW, Guethlein LA, Vu Q, Wang R, Abi-Rached L, Norman PJ, Marsh SG, Miller JS, Parham P, Geraghty DE.

PLoS One. 2010 Dec 29;5(12):e15115. doi: 10.1371/journal.pone.0015115.

11.

High-resolution human genome structure by single-molecule analysis.

Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM, Kohn S, Runnheim R, Lamers C, Forrest D, Newton MA, Eichler EE, Kent-First M, Surti U, Livny M, Schwartz DC.

Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10848-53. doi: 10.1073/pnas.0914638107. Epub 2010 Jun 1.

12.

Genetic polymorphism in cytochrome P450 2D6 (CYP2D6): Population distribution of CYP2D6 activity.

Neafsey P, Ginsberg G, Hattis D, Sonawane B.

J Toxicol Environ Health B Crit Rev. 2009;12(5-6):334-61. doi: 10.1080/10937400903158342. Review.

PMID:
20183526
13.
14.

Closing gaps in the human genome using sequencing by synthesis.

Garber M, Zody MC, Arachchi HM, Berlin A, Gnerre S, Green LM, Lennon N, Nusbaum C.

Genome Biol. 2009;10(6):R60. doi: 10.1186/gb-2009-10-6-r60. Epub 2009 Jun 2. Erratum in: Genome Biol. 2011;12(4):403.

15.

Evolutionary toggling of the MAPT 17q21.31 inversion region.

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.

Nat Genet. 2008 Sep;40(9):1076-83. doi: 10.1038/ng.193.

16.

Profiling of endogenous serum phosphorylated peptides by titanium (IV) immobilized mesoporous silica particles enrichment and MALDI-TOFMS detection.

Hu L, Zhou H, Li Y, Sun S, Guo L, Ye M, Tian X, Gu J, Yang S, Zou H.

Anal Chem. 2009 Jan 1;81(1):94-104. doi: 10.1021/ac801974f.

PMID:
19117447
17.

Adaptive evolution of UGT2B17 copy-number variation.

Xue Y, Sun D, Daly A, Yang F, Zhou X, Zhao M, Huang N, Zerjal T, Lee C, Carter NP, Hurles ME, Tyler-Smith C.

Am J Hum Genet. 2008 Sep;83(3):337-46. doi: 10.1016/j.ajhg.2008.08.004. Epub 2008 Aug 28.

18.

Phosphorylation of SUMO-1 occurs in vivo and is conserved through evolution.

Matic I, Macek B, Hilger M, Walther TC, Mann M.

J Proteome Res. 2008 Sep;7(9):4050-7. doi: 10.1021/pr800368m. Epub 2008 Aug 16.

PMID:
18707152
19.

Ubc9 sumoylation regulates SUMO target discrimination.

Knipscheer P, Flotho A, Klug H, Olsen JV, van Dijk WJ, Fish A, Johnson ES, Mann M, Sixma TK, Pichler A.

Mol Cell. 2008 Aug 8;31(3):371-82. doi: 10.1016/j.molcel.2008.05.022.

20.

Finishing the finished human chromosome 22 sequence.

Cole CG, McCann OT, Collins JE, Oliver K, Willey D, Gribble SM, Yang F, McLaren K, Rogers J, Ning Z, Beare DM, Dunham I.

Genome Biol. 2008;9(5):R78. doi: 10.1186/gb-2008-9-5-r78. Epub 2008 May 13.

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