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Items: 1 to 20 of 303


Psychomotor retardation with a 1q42.11-q42.12 deletion.

He J, Xie Y, Kong S, Qiu W, Wang X, Wang D, Sun X, Sun D.

Hereditas. 2017 Mar 6;154:6. doi: 10.1186/s41065-016-0022-0.


High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens.

Hu XS, Yeh FC, Hu Y, Deng LT, Ennos RA, Chen X.

Sci Rep. 2017 Feb 22;7:43178. doi: 10.1038/srep43178.


Dosage sensitivity is a major determinant of human copy number variant pathogenicity.

Rice AM, McLysaght A.

Nat Commun. 2017 Feb 8;8:14366. doi: 10.1038/ncomms14366.


Genome-Wide Association of Copy Number Polymorphisms and Kidney Function.

Li M, Carey J, Cristiano S, Susztak K, Coresh J, Boerwinkle E, Kao WH, Beaty TH, Köttgen A, Scharpf RB.

PLoS One. 2017 Jan 30;12(1):e0170815. doi: 10.1371/journal.pone.0170815.


Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.

Jeffares DC, Jolly C, Hoti M, Speed D, Shaw L, Rallis C, Balloux F, Dessimoz C, Bähler J, Sedlazeck FJ.

Nat Commun. 2017 Jan 24;8:14061. doi: 10.1038/ncomms14061.


Alfred Sturtevant Walks into a Bar: Gene Dosage, Gene Position, and Unequal Crossing Over in Drosophila.

Wolfner MF, Miller DE.

Genetics. 2016 Nov;204(3):833-835. doi: 10.1534/genetics.116.195891. No abstract available.


Duplication of chicken defensin7 gene generated by gene conversion and homologous recombination.

Lee MO, Bornelöv S, Andersson L, Lamont SJ, Chen J, Womack JE.

Proc Natl Acad Sci U S A. 2016 Nov 29;113(48):13815-13820.


Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM.

Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19;371(1710). pii: 20150406.


Copy number variation analysis reveals additional variants contributing to endometriosis development.

Mafra F, Mazzotti D, Pellegrino R, Bianco B, Barbosa CP, Hakonarson H, Christofolini D.

J Assist Reprod Genet. 2017 Jan;34(1):117-124. doi: 10.1007/s10815-016-0822-1.


A Novel Graph-based Algorithm to Infer Recurrent Copy Number Variations in Cancer.

Chi C, Ajwad R, Kuang Q, Hu P.

Cancer Inform. 2016 Oct 9;15(Suppl 2):43-50.


A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data.

Demidov G, Simakova T, Vnuchkova J, Bragin A.

BMC Bioinformatics. 2016 Oct 22;17(1):429.


Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.

Huang WH, Guenthner CJ, Xu J, Nguyen T, Schwarz LA, Wilkinson AW, Gozani O, Chang HY, Shamloo M, Luo L.

Neuron. 2016 Oct 19;92(2):392-406. doi: 10.1016/j.neuron.2016.09.019.


Representing and decomposing genomic structural variants as balanced integer flows on sequence graphs.

Zerbino DR, Ballinger T, Paten B, Hickey G, Haussler D.

BMC Bioinformatics. 2016 Sep 29;17(1):400.


Experimental factors affecting the robustness of DNA methylation analysis.

Pharo HD, Honne H, Vedeld HM, Dahl C, Andresen K, Liestøl K, Jeanmougin M, Guldberg P, Lind GE.

Sci Rep. 2016 Sep 27;6:33936. doi: 10.1038/srep33936.


Copy Number Studies in Noisy Samples.

Ginsbach P, Chen B, Jiang Y, Engelter ST, Grond-Ginsbach C.

Microarrays (Basel). 2013 Nov 6;2(4):284-303. doi: 10.3390/microarrays2040284.


Identifying Potential Regions of Copy Number Variation for Bipolar Disorder.

Chen YH, Lu RB, Hung H, Kuo PH.

Microarrays (Basel). 2014 Feb 28;3(1):52-71. doi: 10.3390/microarrays3010052.


Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest.

Steenwyk JL, Soghigian JS, Perfect JR, Gibbons JG.

BMC Genomics. 2016 Sep 2;17:700. doi: 10.1186/s12864-016-3044-0.


A generic, cost-effective, and scalable cell lineage analysis platform.

Biezuner T, Spiro A, Raz O, Amir S, Milo L, Adar R, Chapal-Ilani N, Berman V, Fried Y, Ainbinder E, Cohen G, Barr HM, Halaban R, Shapiro E.

Genome Res. 2016 Nov;26(11):1588-1599.


Editorial: Repetitive Structures in Biological Sequences: Algorithms and Applications.

Pellegrini M, Magi A, Iliopoulos CS.

Front Bioeng Biotechnol. 2016 Aug 4;4:66. doi: 10.3389/fbioe.2016.00066. No abstract available.

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