Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 89 entries
Sorted by: Best Match Show Resources per page
Recent genomic advances in schizophrenia.

Clinical genetics

Doherty JL, O'Donovan MC, Owen MJ.
PMID: 21895634
Clin Genet. 2012 Feb;81(2):103-9. doi: 10.1111/j.1399-0004.2011.01773.x. Epub 2011 Oct 05.

Recent studies have supported the hypothesis based upon expectations from population genetics that the high heritability of schizophrenia reflects a combination of relatively common alleles of small effect and rare alleles some with relatively large effects. Genome-wide association studies...

Cite
Doherty JL, O'Donovan MC, Owen MJ. Recent genomic advances in schizophrenia. Clin Genet. 2011;81(2):103-9doi: 10.1111/j.1399-0004.2011.01773.x.
Doherty, J. L., O'Donovan, M. C., & Owen, M. J. (2012). Recent genomic advances in schizophrenia. Clinical genetics, 81(2), 103-9. https://doi.org/10.1111/j.1399-0004.2011.01773.x
Doherty, J L, et al. "Recent genomic advances in schizophrenia." Clinical genetics vol. 81,2 (2012): 103-9. doi: https://doi.org/10.1111/j.1399-0004.2011.01773.x
Doherty JL, O'Donovan MC, Owen MJ. Recent genomic advances in schizophrenia. Clin Genet. 2012 Feb;81(2):103-9. doi: 10.1111/j.1399-0004.2011.01773.x. Epub 2011 Oct 05. PMID: 21895634.
Copy Download .nbib Format: NLM
Genetics of congenital heart disease.

Current opinion in cardiology

Edwards JJ, Gelb BD.
PMID: 26872209
Curr Opin Cardiol. 2016 May;31(3):235-41. doi: 10.1097/HCO.0000000000000274.

PURPOSE OF REVIEW: The goal of this review is to highlight recent discoveries in the field of genetics as it relates to congenital heart disease (CHD). Recent advancements in next generation sequencing technology and tools to interpret this growing...

Cite
Edwards JJ, Gelb BD. Genetics of congenital heart disease. Curr Opin Cardiol. 2016;31(3):235-41doi: 10.1097/HCO.0000000000000274.
Edwards, J. J., & Gelb, B. D. (2016). Genetics of congenital heart disease. Current opinion in cardiology, 31(3), 235-41. https://doi.org/10.1097/HCO.0000000000000274
Edwards, Jonathan J, and Gelb, Bruce D. "Genetics of congenital heart disease." Current opinion in cardiology vol. 31,3 (2016): 235-41. doi: https://doi.org/10.1097/HCO.0000000000000274
Edwards JJ, Gelb BD. Genetics of congenital heart disease. Curr Opin Cardiol. 2016 May;31(3):235-41. doi: 10.1097/HCO.0000000000000274. PMID: 26872209; PMCID: PMC4868504.
Copy Download .nbib Format: NLM
Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack.

Circulation. Cardiovascular genetics

Bouvagnet P.
PMID: 26884608
Circ Cardiovasc Genet. 2016 Feb;9(1):4-5. doi: 10.1161/CIRCGENETICS.116.001360.

No abstract available.

Cite
Bouvagnet P. Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack. Circ Cardiovasc Genet. 2016;9(1):4-5doi: 10.1161/CIRCGENETICS.116.001360.
Bouvagnet, P. (2016). Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack. Circulation. Cardiovascular genetics, 9(1), 4-5. https://doi.org/10.1161/CIRCGENETICS.116.001360
Bouvagnet, Patrice. "Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack." Circulation. Cardiovascular genetics vol. 9,1 (2016): 4-5. doi: https://doi.org/10.1161/CIRCGENETICS.116.001360
Bouvagnet P. Unraveling De Novo Copy Number Variants in Congenital Heart Defects: The Bottom of the Iceberg Is Under Attack. Circ Cardiovasc Genet. 2016 Feb;9(1):4-5. doi: 10.1161/CIRCGENETICS.116.001360. PMID: 26884608.
Copy Download .nbib Format: NLM
Preprocessing and downstream analysis of microarray DNA copy number profiles.

Briefings in bioinformatics

van de Wiel MA, Picard F, van Wieringen WN, Ylstra B.
PMID: 20172948
Brief Bioinform. 2011 Jan;12(1):10-21. doi: 10.1093/bib/bbq004. Epub 2010 Feb 19.

Analysis of DNA copy number profiles requires methods tailored to the specific nature of these data. The number of available data analysis methods has grown enormously in the last 5 years. We discuss the typical characteristics of DNA copy...

Cite
van de Wiel MA, Picard F, van Wieringen WN, et al. Preprocessing and downstream analysis of microarray DNA copy number profiles. Brief Bioinform. 2010;12(1):10-21doi: 10.1093/bib/bbq004.
van de Wiel, M. A., Picard, F., van Wieringen, W. N., & Ylstra, B. (2011). Preprocessing and downstream analysis of microarray DNA copy number profiles. Briefings in bioinformatics, 12(1), 10-21. https://doi.org/10.1093/bib/bbq004
van de Wiel, Mark A, et al. "Preprocessing and downstream analysis of microarray DNA copy number profiles." Briefings in bioinformatics vol. 12,1 (2011): 10-21. doi: https://doi.org/10.1093/bib/bbq004
van de Wiel MA, Picard F, van Wieringen WN, Ylstra B. Preprocessing and downstream analysis of microarray DNA copy number profiles. Brief Bioinform. 2011 Jan;12(1):10-21. doi: 10.1093/bib/bbq004. Epub 2010 Feb 19. PMID: 20172948.
Copy Download .nbib Format: NLM
Response to Mitchell and Porteus.

Molecular psychiatry

Sullivan PF, Gejman PV.
PMID: 20351723
Mol Psychiatry. 2010 May;15(5):450-2. doi: 10.1038/mp.2009.106.

No abstract available.

Cite
Sullivan PF, Gejman PV. Response to Mitchell and Porteus. Mol Psychiatry. 2010;15(5):450-2doi: 10.1038/mp.2009.106.
Sullivan, P. F., & Gejman, P. V. (2010). Response to Mitchell and Porteus. Molecular psychiatry, 15(5), 450-2. https://doi.org/10.1038/mp.2009.106
Sullivan, P F, and Gejman, P V. "Response to Mitchell and Porteus." Molecular psychiatry vol. 15,5 (2010): 450-2. doi: https://doi.org/10.1038/mp.2009.106
Sullivan PF, Gejman PV. Response to Mitchell and Porteus. Mol Psychiatry. 2010 May;15(5):450-2. doi: 10.1038/mp.2009.106. PMID: 20351723; PMCID: PMC4188919.
Copy Download .nbib Format: NLM
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...

Cite
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.
Copy Download .nbib Format: NLM
Sequencing cells one at a time offers singular insight into cancer.

Nature medicine

Erdmann J.
PMID: 22673984
Nat Med. 2012 Jun 06;18(6):842. doi: 10.1038/nm0612-842a.

No abstract available.

Cite
Erdmann J. Sequencing cells one at a time offers singular insight into cancer. Nat Med. 2012;18(6):842doi: 10.1038/nm0612-842a.
Erdmann, J. (2012). Sequencing cells one at a time offers singular insight into cancer. Nature medicine, 18(6), 842. https://doi.org/10.1038/nm0612-842a
Erdmann, Jeanne. "Sequencing cells one at a time offers singular insight into cancer." Nature medicine vol. 18,6 (2012): 842. doi: https://doi.org/10.1038/nm0612-842a
Erdmann J. Sequencing cells one at a time offers singular insight into cancer. Nat Med. 2012 Jun 06;18(6):842. doi: 10.1038/nm0612-842a. PMID: 22673984.
Copy Download .nbib Format: NLM
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...

Cite
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.
Copy Download .nbib Format: NLM
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...

Cite
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.
Copy Download .nbib Format: NLM
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)...

Cite
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.
Copy Download .nbib Format: NLM
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...

Cite
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.
Copy Download .nbib Format: NLM
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...

Cite
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.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 89 entries