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Showing 1 to 12 of 32 entries
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New findings from genetic association studies of schizophrenia.

Journal of human genetics

Williams HJ, Owen MJ, O'Donovan MC.
PMID: 19158819
J Hum Genet. 2009 Jan;54(1):9-14. doi: 10.1038/jhg.2008.7. Epub 2009 Jan 09.

In the past 20 years, association studies of schizophrenia have evolved from analyses in lesser than 100 subjects of one or two markers in candidate genes to systematic analyses of association at a genome-wide level in samples of thousands...

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Williams HJ, Owen MJ, O'Donovan MC. New findings from genetic association studies of schizophrenia. J Hum Genet. 2009;54(1):9-14doi: 10.1038/jhg.2008.7.
Williams, H. J., Owen, M. J., & O'Donovan, M. C. (2009). New findings from genetic association studies of schizophrenia. Journal of human genetics, 54(1), 9-14. https://doi.org/10.1038/jhg.2008.7
Williams, Hywel J, et al. "New findings from genetic association studies of schizophrenia." Journal of human genetics vol. 54,1 (2009): 9-14. doi: https://doi.org/10.1038/jhg.2008.7
Williams HJ, Owen MJ, O'Donovan MC. New findings from genetic association studies of schizophrenia. J Hum Genet. 2009 Jan;54(1):9-14. doi: 10.1038/jhg.2008.7. Epub 2009 Jan 09. PMID: 19158819.
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De novo mutation in schizophrenia.

Schizophrenia bulletin

Rees E, Kirov G, O'Donovan MC, Owen MJ.
PMID: 22451492
Schizophr Bull. 2012 May;38(3):377-81. doi: 10.1093/schbul/sbs047. Epub 2012 Mar 26.

Several studies in the last 5 years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ). This will replenish genetic variants removed by natural selection and could, in part, explain why SZ prevalence...

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Rees E, Kirov G, O'Donovan MC, et al. De novo mutation in schizophrenia. Schizophr Bull. 2012;38(3):377-81doi: 10.1093/schbul/sbs047.
Rees, E., Kirov, G., O'Donovan, M. C., & Owen, M. J. (2012). De novo mutation in schizophrenia. Schizophrenia bulletin, 38(3), 377-81. https://doi.org/10.1093/schbul/sbs047
Rees, Elliott, et al. "De novo mutation in schizophrenia." Schizophrenia bulletin vol. 38,3 (2012): 377-81. doi: https://doi.org/10.1093/schbul/sbs047
Rees E, Kirov G, O'Donovan MC, Owen MJ. De novo mutation in schizophrenia. Schizophr Bull. 2012 May;38(3):377-81. doi: 10.1093/schbul/sbs047. Epub 2012 Mar 26. PMID: 22451492; PMCID: PMC3329988.
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Combined analysis with copy number variation identifies risk loci in lung cancer.

BioMed research international

Li X, Chen X, Hu G, Liu Y, Zhang Z, Wang P, Zhou Y, Yi X, Zhang J, Zhu Y, Wei Z, Yuan F, Zhao G, Zhu J, Hu L, Kong X.
PMID: 25093167
Biomed Res Int. 2014;2014:469103. doi: 10.1155/2014/469103. Epub 2014 Jul 01.

BACKGROUND: Lung cancer is the most important cause of cancer mortality worldwide, but the underlying mechanisms of this disease are not fully understood. Copy number variations (CNVs) are promising genetic variations to study because of their potential effects on...

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Li X, Chen X, Hu G, et al. Combined analysis with copy number variation identifies risk loci in lung cancer. Biomed Res Int. 2014;2014:469103doi: 10.1155/2014/469103.
Li, X., Chen, X., Hu, G., Liu, Y., Zhang, Z., Wang, P., Zhou, Y., Yi, X., Zhang, J., Zhu, Y., Wei, Z., Yuan, F., Zhao, G., Zhu, J., Hu, L., & Kong, X. (2014). Combined analysis with copy number variation identifies risk loci in lung cancer. BioMed research international, 2014469103. https://doi.org/10.1155/2014/469103
Li, Xinlei, et al. "Combined analysis with copy number variation identifies risk loci in lung cancer." BioMed research international vol. 2014 (2014): 469103. doi: https://doi.org/10.1155/2014/469103
Li X, Chen X, Hu G, Liu Y, Zhang Z, Wang P, Zhou Y, Yi X, Zhang J, Zhu Y, Wei Z, Yuan F, Zhao G, Zhu J, Hu L, Kong X. Combined analysis with copy number variation identifies risk loci in lung cancer. Biomed Res Int. 2014;2014:469103. doi: 10.1155/2014/469103. Epub 2014 Jul 01. PMID: 25093167; PMCID: PMC4100386.
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Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.

Schizophrenia bulletin

Luo X, Huang L, Han L, Luo Z, Hu F, Tieu R, Gan L.
PMID: 24664977
Schizophr Bull. 2014 Nov;40(6):1285-99. doi: 10.1093/schbul/sbu045. Epub 2014 Mar 24.

Schizophrenia is a common mental disorder with high heritability and strong genetic heterogeneity. Common disease-common variants hypothesis predicts that schizophrenia is attributable in part to common genetic variants. However, recent studies have clearly demonstrated that copy number variations (CNVs)...

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Luo X, Huang L, Han L, et al. Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes. Schizophr Bull. 2014;40(6):1285-99doi: 10.1093/schbul/sbu045.
Luo, X., Huang, L., Han, L., Luo, Z., Hu, F., Tieu, R., & Gan, L. (2014). Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes. Schizophrenia bulletin, 40(6), 1285-99. https://doi.org/10.1093/schbul/sbu045
Luo, Xiongjian, et al. "Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes." Schizophrenia bulletin vol. 40,6 (2014): 1285-99. doi: https://doi.org/10.1093/schbul/sbu045
Luo X, Huang L, Han L, Luo Z, Hu F, Tieu R, Gan L. Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes. Schizophr Bull. 2014 Nov;40(6):1285-99. doi: 10.1093/schbul/sbu045. Epub 2014 Mar 24. PMID: 24664977; PMCID: PMC4193716.
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Using MEMo to discover mutual exclusivity modules in cancer.

Current protocols in bioinformatics

Ciriello G, Cerami E, Aksoy BA, Sander C, Schultz N.
PMID: 23504936
Curr Protoc Bioinformatics. 2013 Mar;Unit 8.17. doi: 10.1002/0471250953.bi0817s41.

Although individual tumors show surprisingly diverse genomic alterations, these events tend to occur in a limited number of pathways, and alterations that affect the same pathway tend to not co-occur in the same patient. While pathway analysis has been...

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Ciriello G, Cerami E, Aksoy BA, et al. Using MEMo to discover mutual exclusivity modules in cancer. Curr Protoc Bioinformatics. 2013;Unit 8.17doi: 10.1002/0471250953.bi0817s41.
Ciriello, G., Cerami, E., Aksoy, B. A., Sander, C., & Schultz, N. (2013). Using MEMo to discover mutual exclusivity modules in cancer. Current protocols in bioinformatics, Unit 8.17. https://doi.org/10.1002/0471250953.bi0817s41
Ciriello, Giovanni, et al. "Using MEMo to discover mutual exclusivity modules in cancer." Current protocols in bioinformatics vol. (2013): Unit 8.17. doi: https://doi.org/10.1002/0471250953.bi0817s41
Ciriello G, Cerami E, Aksoy BA, Sander C, Schultz N. Using MEMo to discover mutual exclusivity modules in cancer. Curr Protoc Bioinformatics. 2013 Mar;Unit 8.17. doi: 10.1002/0471250953.bi0817s41. PMID: 23504936; PMCID: PMC5563973.
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Distribution of disease-associated copy number variants across distinct disorders of cognitive development.

Journal of the American Academy of Child and Adolescent Psychiatry

Pescosolido MF, Gamsiz ED, Nagpal S, Morrow EM.
PMID: 23582872
J Am Acad Child Adolesc Psychiatry. 2013 Apr;52(4):414-430.e14. doi: 10.1016/j.jaac.2013.01.003.

OBJECTIVE: The purpose of the present study was to discover the extent to which distinct DSM disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of...

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Pescosolido MF, Gamsiz ED, Nagpal S, et al. Distribution of disease-associated copy number variants across distinct disorders of cognitive development. J Am Acad Child Adolesc Psychiatry. 2013;52(4):414-430.e14doi: 10.1016/j.jaac.2013.01.003.
Pescosolido, M. F., Gamsiz, E. D., Nagpal, S., & Morrow, E. M. (2013). Distribution of disease-associated copy number variants across distinct disorders of cognitive development. Journal of the American Academy of Child and Adolescent Psychiatry, 52(4), 414-430.e14. https://doi.org/10.1016/j.jaac.2013.01.003
Pescosolido, Matthew F, et al. "Distribution of disease-associated copy number variants across distinct disorders of cognitive development." Journal of the American Academy of Child and Adolescent Psychiatry vol. 52,4 (2013): 414-430.e14. doi: https://doi.org/10.1016/j.jaac.2013.01.003
Pescosolido MF, Gamsiz ED, Nagpal S, Morrow EM. Distribution of disease-associated copy number variants across distinct disorders of cognitive development. J Am Acad Child Adolesc Psychiatry. 2013 Apr;52(4):414-430.e14. doi: 10.1016/j.jaac.2013.01.003. PMID: 23582872; PMCID: PMC3774163.
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CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.

eLife

Franch-Expósito S, Bassaganyas L, Vila-Casadesús M, Hernández-Illán E, Esteban-Fabró R, Díaz-Gay M, Lozano JJ, Castells A, Llovet JM, Castellví-Bel S, Camps J.
PMID: 31939734
Elife. 2020 Jan 15;9. doi: 10.7554/eLife.50267.

Somatic copy number alterations (CNAs) are a hallmark of cancer, but their role in tumorigenesis and clinical relevance remain largely unclear. Here, we developed CNApp, a web-based tool that allows a comprehensive exploration of CNAs by using purity-corrected segmented...

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Franch-Expósito S, Bassaganyas L, Vila-Casadesús M, et al. CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications. Elife. 2020;9doi: 10.7554/eLife.50267.
Franch-Expósito, S., Bassaganyas, L., Vila-Casadesús, M., Hernández-Illán, E., Esteban-Fabró, R., Díaz-Gay, M., Lozano, J. J., Castells, A., Llovet, J. M., Castellví-Bel, S., & Camps, J. (2020). CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications. eLife, 9. https://doi.org/10.7554/eLife.50267
Franch-Expósito, Sebastià, et al. "CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications." eLife vol. 9 (2020). doi: https://doi.org/10.7554/eLife.50267
Franch-Expósito S, Bassaganyas L, Vila-Casadesús M, Hernández-Illán E, Esteban-Fabró R, Díaz-Gay M, Lozano JJ, Castells A, Llovet JM, Castellví-Bel S, Camps J. CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications. Elife. 2020 Jan 15;9. doi: 10.7554/eLife.50267. PMID: 31939734; PMCID: PMC7010409.
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CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression.

IEEE/ACM transactions on computational biology and bioinformatics

Mu Q, Wang J.
PMID: 31581092
IEEE/ACM Trans Comput Biol Bioinform. 2021 Jan-Feb;18(1):306-311. doi: 10.1109/TCBB.2019.2944827. Epub 2021 Feb 03.

Detection of DNA copy number alteration in cancer cells is critical to understanding cancer initiation and progression. Widely used methods, such as DNA arrays and genomic DNA sequencing, are relatively expensive and require DNA samples at a microgram level,...

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Mu Q, Wang J. CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression. IEEE/ACM Trans Comput Biol Bioinform. 2021;18(1):306-311doi: 10.1109/TCBB.2019.2944827.
Mu, Q., & Wang, J. (2021). CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression. IEEE/ACM transactions on computational biology and bioinformatics, 18(1), 306-311. https://doi.org/10.1109/TCBB.2019.2944827
Mu, Quanhua, and Wang, Jiguang. "CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression." IEEE/ACM transactions on computational biology and bioinformatics vol. 18,1 (2021): 306-311. doi: https://doi.org/10.1109/TCBB.2019.2944827
Mu Q, Wang J. CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression. IEEE/ACM Trans Comput Biol Bioinform. 2021 Jan-Feb;18(1):306-311. doi: 10.1109/TCBB.2019.2944827. Epub 2021 Feb 03. PMID: 31581092.
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DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.

Biomedical journal

Pös O, Radvanszky J, Buglyó G, Pös Z, Rusnakova D, Nagy B, Szemes T.
PMID: 34649833
Biomed J. 2021 Oct;44(5):548-559. doi: 10.1016/j.bj.2021.02.003. Epub 2021 Feb 13.

Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence...

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Pös O, Radvanszky J, Buglyó G, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomed J. 2021;44(5):548-559doi: 10.1016/j.bj.2021.02.003.
Pös, O., Radvanszky, J., Buglyó, G., Pös, Z., Rusnakova, D., Nagy, B., & Szemes, T. (2021). DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomedical journal, 44(5), 548-559. https://doi.org/10.1016/j.bj.2021.02.003
Pös, Ondrej, et al. "DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects." Biomedical journal vol. 44,5 (2021): 548-559. doi: https://doi.org/10.1016/j.bj.2021.02.003
Pös O, Radvanszky J, Buglyó G, Pös Z, Rusnakova D, Nagy B, Szemes T. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomed J. 2021 Oct;44(5):548-559. doi: 10.1016/j.bj.2021.02.003. Epub 2021 Feb 13. PMID: 34649833; PMCID: PMC8640565.
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CNVs inform the biological network of Autism spectrum disorder.

Psychiatry research

Briuglia S, Calabrò M, Capra AP, La Rosa MA, Crisafulli C.
PMID: 33524775
Psychiatry Res. 2021 Mar;297:113729. doi: 10.1016/j.psychres.2021.113729. Epub 2021 Jan 21.

Autism spectrum disorder (ASD) is a heterogeneous condition linked to an anomalous neurodevelopment. Although the underlying causes of ASD are not well described, literature data strongly suggests a genetic component, with a complex inheritance pattern. It has recently been...

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Briuglia S, Calabrò M, Capra AP, et al. CNVs inform the biological network of Autism spectrum disorder. Psychiatry Res. 2021;297:113729doi: 10.1016/j.psychres.2021.113729.
Briuglia, S., Calabrò, M., Capra, A. P., La Rosa, M. A., & Crisafulli, C. (2021). CNVs inform the biological network of Autism spectrum disorder. Psychiatry research, 297113729. https://doi.org/10.1016/j.psychres.2021.113729
Briuglia, Silvana, et al. "CNVs inform the biological network of Autism spectrum disorder." Psychiatry research vol. 297 (2021): 113729. doi: https://doi.org/10.1016/j.psychres.2021.113729
Briuglia S, Calabrò M, Capra AP, La Rosa MA, Crisafulli C. CNVs inform the biological network of Autism spectrum disorder. Psychiatry Res. 2021 Mar;297:113729. doi: 10.1016/j.psychres.2021.113729. Epub 2021 Jan 21. PMID: 33524775.
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Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing.

Current protocols in human genetics

Dong Z, Xie W, Chen H, Xu J, Wang H, Li Y, Wang J, Chen F, Choy KW, Jiang H.
PMID: 28696555
Curr Protoc Hum Genet. 2017 Jul 11;94:8.17.1-8.17.16. doi: 10.1002/cphg.43.

Emerging studies have demonstrated that whole-genome sequencing (WGS) is an efficient tool for copy-number variants (CNV) detection, particularly in probe-poor regions, as compared to chromosomal microarray analysis (CMA). However, the cost of testing is beyond economical for routine usage...

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Dong Z, Xie W, Chen H, et al. Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2017;94:8.17.1-8.17.16doi: 10.1002/cphg.43.
Dong, Z., Xie, W., Chen, H., Xu, J., Wang, H., Li, Y., Wang, J., Chen, F., Choy, K. W., & Jiang, H. (2017). Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. Current protocols in human genetics, 948.17.1-8.17.16. https://doi.org/10.1002/cphg.43
Dong, Zirui, et al. "Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing." Current protocols in human genetics vol. 94 (2017): 8.17.1-8.17.16. doi: https://doi.org/10.1002/cphg.43
Dong Z, Xie W, Chen H, Xu J, Wang H, Li Y, Wang J, Chen F, Choy KW, Jiang H. Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2017 Jul 11;94:8.17.1-8.17.16. doi: 10.1002/cphg.43. PMID: 28696555.
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Enhancer chip: detecting human copy number variations in regulatory elements.

PloS one

Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V.
PMID: 23284961
PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20.

Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease. In fact, various disorders, such as thalassaemias, preaxial polydactyly or...

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Savarese M, Piluso G, Orteschi D, et al. Enhancer chip: detecting human copy number variations in regulatory elements. PLoS One. 2012;7(12):e52264doi: 10.1371/journal.pone.0052264.
Savarese, M., Piluso, G., Orteschi, D., Di Fruscio, G., Dionisi, M., Blanco, F. d. e. l. . V., Torella, A., Giugliano, T., Iacomino, M., Zollino, M., Neri, G., & Nigro, V. (2012). Enhancer chip: detecting human copy number variations in regulatory elements. PloS one, 7(12), e52264. https://doi.org/10.1371/journal.pone.0052264
Savarese, Marco, et al. "Enhancer chip: detecting human copy number variations in regulatory elements." PloS one vol. 7,12 (2012): e52264. doi: https://doi.org/10.1371/journal.pone.0052264
Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V. Enhancer chip: detecting human copy number variations in regulatory elements. PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20. PMID: 23284961; PMCID: PMC3527541.
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Showing 1 to 12 of 32 entries