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Items: 1 to 20 of 22

1.

An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.

Zare F, Dow M, Monteleone N, Hosny A, Nabavi S.

BMC Bioinformatics. 2017 May 31;18(1):286. doi: 10.1186/s12859-017-1705-x.

2.

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub.

Blizinsky KD, Diaz-Castro B, Forrest MP, Schürmann B, Bach AP, Martin-de-Saavedra MD, Wang L, Csernansky JG, Duan J, Penzes P.

Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):8520-5. doi: 10.1073/pnas.1607014113. Epub 2016 Jul 11.

3.

Genome-wide detection of CNVs in Chinese indigenous sheep with different types of tails using ovine high-density 600K SNP arrays.

Zhu C, Fan H, Yuan Z, Hu S, Ma X, Xuan J, Wang H, Zhang L, Wei C, Zhang Q, Zhao F, Du L.

Sci Rep. 2016 Jun 10;6:27822. doi: 10.1038/srep27822.

4.

Cyfip1 Regulates Presynaptic Activity during Development.

Hsiao K, Harony-Nicolas H, Buxbaum JD, Bozdagi-Gunal O, Benson DL.

J Neurosci. 2016 Feb 3;36(5):1564-76. doi: 10.1523/JNEUROSCI.0511-15.2016.

5.

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, Gimelli G.

Mol Cytogenet. 2015 Nov 5;8:87. doi: 10.1186/s13039-015-0188-6. eCollection 2015.

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.

Implication of a rare deletion at distal 16p11.2 in schizophrenia.

Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2.

JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71.

8.

A pilot study on collective effects of 22q13.31 deletions on gray matter concentration in schizophrenia.

Liu J, Ulloa A, Perrone-Bizzozero N, Yeo R, Chen J, Calhoun VD.

PLoS One. 2012;7(12):e52865. doi: 10.1371/journal.pone.0052865. Epub 2012 Dec 28.

9.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A; GERAD1 Consortium, Holmans P, Owen MJ, O'Donovan MC, Williams J, Kirov G.

Hum Mol Genet. 2013 Feb 15;22(4):816-24. doi: 10.1093/hmg/dds476. Epub 2012 Nov 11.

10.

Genome-wide identification of copy number variations in Chinese Holstein.

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

PLoS One. 2012;7(11):e48732. doi: 10.1371/journal.pone.0048732. Epub 2012 Nov 7.

11.
12.

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice.

Bozdagi O, Sakurai T, Dorr N, Pilorge M, Takahashi N, Buxbaum JD.

PLoS One. 2012;7(8):e42422. doi: 10.1371/journal.pone.0042422. Epub 2012 Aug 10.

13.

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Van de Kerkhof NW, Feenstra I, van der Heijden FM, de Leeuw N, Pfundt R, Stöber G, Egger JI, Verhoeven WM.

Neuropsychiatr Dis Treat. 2012;8:295-300. doi: 10.2147/NDT.S32903. Epub 2012 Jul 12.

14.

Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia.

Lee Y, Mattai A, Long R, Rapoport JL, Gogtay N, Addington AM.

Psychiatr Genet. 2012 Aug;22(4):206-9. doi: 10.1097/YPG.0b013e328353ae3d.

15.

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, Nguyen TT, Romanos J, Romanos M, Seitz C, Renner TJ, Walitza S, Warnke A, Palmason H, Buitelaar J, Rommelse N, Vasquez AA, Hawi Z, Langley K, Sergeant J, Steinhausen HC, Roeyers H, Biederman J, Zaharieva I, Hakonarson H, Elia J, Lionel AC, Crosbie J, Marshall CR, Schachar R, Scherer SW, Todorov A, Smalley SL, Loo S, Nelson S, Shtir C, Asherson P, Reif A, Lesch KP, Faraone SV.

Am J Psychiatry. 2012 Feb;169(2):195-204.

16.

Genome-wide association studies of schizophrenia: does bigger lead to better results?

Bergen SE, Petryshen TL.

Curr Opin Psychiatry. 2012 Mar;25(2):76-82. doi: 10.1097/YCO.0b013e32835035dd. Review.

17.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

18.

Genome-wide association analysis of copy number variation in recurrent depressive disorder.

Rucker JJ, Breen G, Pinto D, Pedroso I, Lewis CM, Cohen-Woods S, Uher R, Schosser A, Rivera M, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Muglia P, Barnes MR, Preisig M, Mors O, Gill M, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P.

Mol Psychiatry. 2013 Feb;18(2):183-9. doi: 10.1038/mp.2011.144. Epub 2011 Nov 1.

19.

Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.

Melhem N, Middleton F, McFadden K, Klei L, Faraone SV, Vinogradov S, Tiobech J, Yano V, Kuartei S, Roeder K, Byerley W, Devlin B, Myles-Worsley M.

Biol Psychiatry. 2011 Dec 15;70(12):1115-21. doi: 10.1016/j.biopsych.2011.08.009. Epub 2011 Oct 7.

20.

Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia.

Maiti S, Kumar KH, Castellani CA, O'Reilly R, Singh SM.

PLoS One. 2011 Mar 2;6(3):e17125. doi: 10.1371/journal.pone.0017125.

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