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Results: 1 to 20 of 73

Similar articles for PubMed (Select 24672537)

1.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.

Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014. Review.

2.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

3.

An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs.

Marcinkowska-Swojak M, Klonowska K, Figlerowicz M, Kozlowski P.

Gene. 2014 Aug 10;546(2):257-62. doi: 10.1016/j.gene.2014.05.072. Epub 2014 Jun 2.

PMID:
24942243
4.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y.

BMC Med Genet. 2014 May 29;15:62. doi: 10.1186/1471-2350-15-62.

5.

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Sleiman P, Bradfield J, Mentch F, Almoguera B, Connolly J, Hakonarson H.

Front Genet. 2014 Apr 29;5:105. doi: 10.3389/fgene.2014.00105. eCollection 2014.

6.

Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.

Castellani CA, Melka MG, Wishart AE, Locke ME, Awamleh Z, O'Reilly RL, Singh SM.

BMC Bioinformatics. 2014 Apr 21;15:114. doi: 10.1186/1471-2105-15-114.

7.

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.

Zhao M, Wang Q, Wang Q, Jia P, Zhao Z.

BMC Bioinformatics. 2013;14 Suppl 11:S1. doi: 10.1186/1471-2105-14-S11-S1. Epub 2013 Sep 13.

8.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

9.

Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder.

Ramos-Quiroga JA, Sánchez-Mora C, Casas M, Garcia-Martínez I, Bosch R, Nogueira M, Corrales M, Palomar G, Vidal R, Coll-Tané M, Bayés M, Cormand B, Ribasés M.

J Psychiatr Res. 2014 Feb;49:60-7. doi: 10.1016/j.jpsychires.2013.10.022. Epub 2013 Nov 9.

PMID:
24269040
10.

Reduced burden of very large and rare CNVs in bipolar affective disorder.

Grozeva D, Kirov G, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N.

Bipolar Disord. 2013 Dec;15(8):893-8. doi: 10.1111/bdi.12125. Epub 2013 Oct 16.

PMID:
24127788
11.

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B.

Carcinogenesis. 2014 Feb;35(2):315-23. doi: 10.1093/carcin/bgt344. Epub 2013 Oct 14.

12.

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.

Qiao Y, Badduke C, Mercier E, Lewis SM, Pavlidis P, Rajcan-Separovic E.

BMC Genomics. 2013 Aug 10;14:544. doi: 10.1186/1471-2164-14-544.

13.

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID.

Am J Med Genet A. 2013 Sep;161A(9):2134-47. doi: 10.1002/ajmg.a.36038. Epub 2013 Jul 29.

14.

Pathogenic or not? Assessing the clinical relevance of copy number variants.

Hehir-Kwa JY, Pfundt R, Veltman JA, de Leeuw N.

Clin Genet. 2013 Nov;84(5):415-21. doi: 10.1111/cge.12242. Epub 2013 Aug 21. Review.

PMID:
23895381
15.

Analysis of copy number variants by three detection algorithms and their association with body size in horses.

Metzger J, Philipp U, Lopes MS, da Camara Machado A, Felicetti M, Silvestrelli M, Distl O.

BMC Genomics. 2013 Jul 18;14:487. doi: 10.1186/1471-2164-14-487.

16.

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Valsesia A, Macé A, Jacquemont S, Beckmann JS, Kutalik Z.

Front Genet. 2013 May 30;4:92. doi: 10.3389/fgene.2013.00092. eCollection 2013.

17.

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Knierim E, Schwarz JM, Schuelke M, Seelow D.

J Med Genet. 2013 Aug;50(8):529-33. doi: 10.1136/jmedgenet-2012-101497. Epub 2013 May 31.

PMID:
23729504
18.

CNV-TV: a robust method to discover copy number variation from short sequencing reads.

Duan J, Zhang JG, Deng HW, Wang YP.

BMC Bioinformatics. 2013 May 2;14:150. doi: 10.1186/1471-2105-14-150.

19.

Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.

Nag A, Venturini C, Hysi PG, Arno M, Aldecoa-Otalora Astarloa E, Macgregor S, Hewitt AW, Young TL, Mitchell P, Viswanathan AC, Mackey DA, Hammond CJ.

Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3607-12. doi: 10.1167/iovs.13-11952.

20.

Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins.

Jiang L, Jiang J, Yang J, Liu X, Wang J, Wang H, Ding X, Liu J, Zhang Q.

BMC Genomics. 2013 Feb 27;14:131. doi: 10.1186/1471-2164-14-131.

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