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Results: 1 to 20 of 101

1.

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.

PMID:
23897863
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.

Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20.

PMID:
22010865
[PubMed - indexed for MEDLINE]
3.

Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.

Kaurani L, Vishal M, Kumar D, Sharma A, Mehani B, Sharma C, Chakraborty S, Jha P, Ray J, Sen A, Dash D, Ray K, Mukhopadhyay A.

Invest Ophthalmol Vis Sci. 2014 Apr 24;55(5):3258-64. doi: 10.1167/iovs.14-14339.

PMID:
24764060
[PubMed - indexed for MEDLINE]
4.

Copy number variants are a common cause of non-syndromic hearing loss.

Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ.

Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014.

PMID:
24963352
[PubMed]
Free PMC Article
5.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

PMID:
23979609
[PubMed - indexed for MEDLINE]
6.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO.

PLoS Comput Biol. 2010 Nov 11;6(11):e1000988. doi: 10.1371/journal.pcbi.1000988.

PMID:
21085617
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.

J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25.

PMID:
19246478
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
24885232
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

Tang CS, Cheng G, So MT, Yip BH, Miao XP, Wong EH, Ngan ES, Lui VC, Song YQ, Chan D, Cheung K, Yuan ZW, Lei L, Chung PH, Liu XL, Wong KK, Marshall CR, Scherer SW, Cherny SS, Sham PC, Tam PK, Garcia-Barceló MM.

PLoS Genet. 2012;8(5):e1002687. doi: 10.1371/journal.pgen.1002687. Epub 2012 May 10. Erratum in: PLoS Genet. 2012 May;8(5): doi/10.1371/annotation/0ffda9e0-ba27-40c1-b766-df58de9083d5. Scherer, Steve [corrected to Scherer, Stephen W]..

PMID:
22589734
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.

PMID:
24021551
[PubMed - indexed for MEDLINE]
12.

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA.

Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30.

PMID:
24878679
[PubMed - indexed for MEDLINE]
13.

Evaluation of copy number variation detection for a SNP array platform.

Zhang X, Du R, Li S, Zhang F, Jin L, Wang H.

BMC Bioinformatics. 2014 Feb 21;15:50. doi: 10.1186/1471-2105-15-50.

PMID:
24555668
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K.

Cytogenet Genome Res. 2011;135(3-4):251-9. doi: 10.1159/000331272. Epub 2011 Sep 13. Review.

PMID:
21921585
[PubMed - indexed for MEDLINE]
15.

Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.

Martins FT, Ramos PZ, Svidnicki MC, Castilho AM, Sartorato EL.

BMC Med Genet. 2013 Oct 24;14:112. doi: 10.1186/1471-2350-14-112.

PMID:
24156272
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
24368850
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
24750645
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Infantile spasms are associated with abnormal copy number variations.

Tiwari VN, Sundaram SK, Chugani HT, Huq AH.

J Child Neurol. 2013 Oct;28(10):1191-6. doi: 10.1177/0883073812453496. Epub 2012 Aug 21.

PMID:
22914377
[PubMed - indexed for MEDLINE]
19.

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

PMID:
22939634
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE.

Genome Res. 2009 Sep;19(9):1579-85. doi: 10.1101/gr.094987.109. Epub 2009 Jun 8.

PMID:
19506092
[PubMed - indexed for MEDLINE]
Free PMC Article

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