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Items: 1 to 20 of 96

1.

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.

Crawford K, Bracher-Smith M, Owen D, Kendall KM, Rees E, Pardiñas AF, Einon M, Escott-Price V, Walters JTR, O'Donovan MC, Owen MJ, Kirov G.

J Med Genet. 2019 Mar;56(3):131-138. doi: 10.1136/jmedgenet-2018-105477. Epub 2018 Oct 20.

PMID:
30343275
2.

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank.

Owen D, Bracher-Smith M, Kendall KM, Rees E, Einon M, Escott-Price V, Owen MJ, O'Donovan MC, Kirov G.

BMC Genomics. 2018 Dec 4;19(1):867. doi: 10.1186/s12864-018-5292-7.

3.

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.

Kendall KM, Bracher-Smith M, Fitzpatrick H, Lynham A, Rees E, Escott-Price V, Owen MJ, O'Donovan MC, Walters JTR, Kirov G.

Br J Psychiatry. 2019 May;214(5):297-304. doi: 10.1192/bjp.2018.301. Epub 2019 Feb 15.

4.

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.

Kendall KM, Rees E, Escott-Price V, Einon M, Thomas R, Hewitt J, O'Donovan MC, Owen MJ, Walters JTR, Kirov G.

Biol Psychiatry. 2017 Jul 15;82(2):103-110. doi: 10.1016/j.biopsych.2016.08.014. Epub 2016 Aug 18.

PMID:
27773354
5.

Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.

Chawner SJRA, Owen MJ, Holmans P, Raymond FL, Skuse D, Hall J, van den Bree MBM.

Lancet Psychiatry. 2019 Jun;6(6):493-505. doi: 10.1016/S2215-0366(19)30123-3. Epub 2019 May 2.

PMID:
31056457
6.

Copy number variations and cognitive phenotypes in unselected populations.

Männik K, Mägi R, Macé A, Cole B, Guyatt AL, Shihab HA, Maillard AM, Alavere H, Kolk A, Reigo A, Mihailov E, Leitsalu L, Ferreira AM, Nõukas M, Teumer A, Salvi E, Cusi D, McGue M, Iacono WG, Gaunt TR, Beckmann JS, Jacquemont S, Kutalik Z, Pankratz N, Timpson N, Metspalu A, Reymond A.

JAMA. 2015 May 26;313(20):2044-54. doi: 10.1001/jama.2015.4845.

7.

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM.

JAMA Neurol. 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775.

8.

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves.

Faure A, Bouty A, Caruana G, Williams L, Burgess T, Wong MN, James PA, O'Brien M, Walker A, Bertram JF, Heloury Y.

J Pediatr Urol. 2016 Aug;12(4):227.e1-7. doi: 10.1016/j.jpurol.2016.02.020. Epub 2016 Apr 19.

PMID:
27160979
9.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A.

Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

10.

Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.

Sokolowski M, Wasserman J, Wasserman D.

PLoS One. 2016 Dec 28;11(12):e0168531. doi: 10.1371/journal.pone.0168531. eCollection 2016.

11.

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.

12.

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.

Rees E, Kendall K, Pardiñas AF, Legge SE, Pocklington A, Escott-Price V, MacCabe JH, Collier DA, Holmans P, O'Donovan MC, Owen MJ, Walters JTR, Kirov G.

JAMA Psychiatry. 2016 Sep 1;73(9):963-969. doi: 10.1001/jamapsychiatry.2016.1831.

13.

Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.

Hudac CM, Kresse A, Aaronson B, DesChamps TD, Webb SJ, Bernier RA.

J Neurodev Disord. 2015;7(1):25. doi: 10.1186/s11689-015-9118-5. Epub 2015 Jul 24.

14.

Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.

Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF.

Mol Psychiatry. 2013 Nov;18(11):1178-84. doi: 10.1038/mp.2013.98. Epub 2013 Aug 13.

15.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE.

Am J Hum Genet. 2016 Jan 7;98(1):45-57. doi: 10.1016/j.ajhg.2015.11.017. Epub 2015 Dec 31.

16.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH; Simons VIP Consortium.

Am J Med Genet A. 2016 Nov;170(11):2943-2955. doi: 10.1002/ajmg.a.37820. Epub 2016 Jul 13.

PMID:
27410714
17.

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.

Uebe S, Ehrlicher M, Ekici AB, Behrens F, Böhm B, Homuth G, Schurmann C, Völker U, Jünger M, Nauck M, Völzke H, Traupe H, Krawczak M, Burkhardt H, Reis A, Hüffmeier U.

BMC Med Genet. 2017 Aug 23;18(1):92. doi: 10.1186/s12881-017-0447-y.

18.

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.

19.

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP.

J Thorac Cardiovasc Surg. 2016 Apr;151(4):1147-51.e4. doi: 10.1016/j.jtcvs.2015.09.136. Epub 2015 Nov 10.

20.

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.

Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):3029-3039. doi: 10.1210/jc.2017-00565.

PMID:
28605459

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