Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100


Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA.

Cell Rep. 2014 Sep 11;8(5):1280-9. doi: 10.1016/j.celrep.2014.07.043. Epub 2014 Aug 21. Erratum in: Cell Rep. 2015 Feb 3;10(4):645.


Assessment of megabase-scale somatic copy number variation using single-cell sequencing.

Knouse KA, Wu J, Amon A.

Genome Res. 2016 Mar;26(3):376-84. doi: 10.1101/gr.198937.115. Epub 2016 Jan 15.


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.


Mosaic copy number variation in human neurons.

McConnell MJ, Lindberg MR, Brennand KJ, Piper JC, Voet T, Cowing-Zitron C, Shumilina S, Lasken RS, Vermeesch JR, Hall IM, Gage FH.

Science. 2013 Nov 1;342(6158):632-7. doi: 10.1126/science.1243472.


Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.

Haraksingh RR, Abyzov A, Gerstein M, Urban AE, Snyder M.

PLoS One. 2011;6(11):e27859. doi: 10.1371/journal.pone.0027859. Epub 2011 Nov 30.


Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA.

Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.


High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.

BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.


Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.

Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM.

Nature. 2012 Dec 20;492(7429):438-42. doi: 10.1038/nature11629. Epub 2012 Nov 18.


A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing.

Zhang C, Zhang C, Chen S, Yin X, Pan X, Lin G, Tan Y, Tan K, Xu Z, Hu P, Li X, Chen F, Xu X, Li Y, Zhang X, Jiang H, Wang W.

PLoS One. 2013;8(1):e54236. doi: 10.1371/journal.pone.0054236. Epub 2013 Jan 23.


Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.

Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA.

Cell. 2012 Oct 26;151(3):483-96. doi: 10.1016/j.cell.2012.09.035.


De novo copy number variations in cloned dogs from the same nuclear donor.

Jung SH, Yim SH, Oh HJ, Park JE, Kim MJ, Kim GA, Kim TM, Kim JS, Lee BC, Chung YJ.

BMC Genomics. 2013 Dec 9;14:863. doi: 10.1186/1471-2164-14-863.


Genome-wide association study of copy number variations (CNVs) with opioid dependence.

Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J.

Neuropsychopharmacology. 2015 Mar;40(4):1016-26. doi: 10.1038/npp.2014.290. Epub 2014 Sep 27.


High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort.

Chia NL, Bryce M, Hickman PE, Potter JM, Glasgow N, Koerbin G, Danoy P, Brown MA, Cavanaugh J.

Cytogenet Genome Res. 2013;141(1):16-25. doi: 10.1159/000350767. Epub 2013 Apr 26.


Somatic Mosaicism in Bulls Estimated from Genome-Wide CNV Array and TSPY Gene Copy Numbers.

Oluwole OA, Revay T, Mahboubi K, Favetta LA, King WA.

Cytogenet Genome Res. 2016;149(3):176-181. Epub 2016 Aug 18.


Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.

Takahashi S, Suzuki T, Nakamura-Tomizuka S, Osaki K, Sotome Y, Sagawa T, Uchiyama M.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):229-35. doi: 10.1002/ajmg.b.32307. Epub 2015 Mar 16.


Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.

Žilina O, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.

BMC Genomics. 2015 Sep 16;16:703. doi: 10.1186/s12864-015-1916-3.


Application of BAC-probes to visualize copy number variants (CNVs).

Weise A, Othman MA, Bhatt S, Löhmer S, Liehr T.

Methods Mol Biol. 2015;1227:299-307. doi: 10.1007/978-1-4939-1652-8_16.


De novo rates and selection of large copy number variation.

Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE.

Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14.


Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C.

Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1.


Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.

Pamphlett R, Morahan JM, Luquin N, Yu B.

Muscle Nerve. 2011 Oct;44(4):492-8. doi: 10.1002/mus.22095. Epub 2011 Aug 8.


Supplemental Content

Support Center