Copy number variation (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Copy number variation" in English language version.

refsWebsite

Global rank English rank

49nih.gov

4^th place

33doi.org

2^nd place

9semanticscholar.org

11^th place

8^th place

6harvard.edu

18^th place

17^th place

2handle.net

102^nd place

76^th place

1umich.edu

459^th place

360^th place

1zenodo.org

621^st place

380^th place

doi.org

McCarroll SA, Altshuler DM (July 2007). "Copy-number variation and association studies of human disease". Nature Genetics. 39 (7 Suppl): S37-42. doi:10.1038/ng2080. PMID 17597780. S2CID 8521333.
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, et al. (July 2005). "Segmental duplications and copy-number variation in the human genome". American Journal of Human Genetics. 77 (1): 78–88. doi:10.1086/431652. PMC 1226196. PMID 15918152.
de Koning AP, Gu W, Castoe TA, Batzer MA, Pollock DD (December 2011). "Repetitive elements may comprise over two-thirds of the human genome". PLOS Genetics. 7 (12): e1002384. doi:10.1371/journal.pgen.1002384. PMC 3228813. PMID 22144907.
Zarrei M, MacDonald JR, Merico D, Scherer SW (March 2015). "A copy number variation map of the human genome". Nature Reviews. Genetics. 16 (3): 172–83. doi:10.1038/nrg3871. hdl:2027.42/146425. PMID 25645873. S2CID 19697843.
Hastings PJ, Lupski JR, Rosenberg SM, Ira G (August 2009). "Mechanisms of change in gene copy number". Nature Reviews. Genetics. 10 (8): 551–64. doi:10.1038/nrg2593. PMC 2864001. PMID 19597530.
"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group" (PDF). Cell. 72 (6): 971–83. March 1993. doi:10.1016/0092-8674(93)90585-e. hdl:2027.42/30901. PMID 8458085. S2CID 802885.
Myers RH (April 2004). "Huntington's disease genetics". NeuroRx. 1 (2): 255–62. doi:10.1602/neurorx.1.2.255. PMC 534940. PMID 15717026.
Albertini AM, Hofer M, Calos MP, Miller JH (June 1982). "On the formation of spontaneous deletions: the importance of short sequence homologies in the generation of large deletions". Cell. 29 (2): 319–28. doi:10.1016/0092-8674(82)90148-9. PMID 6288254. S2CID 36657944.
Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, et al. (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015. PMID 17828263.
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, et al. (August 2006). "Copy number variation: new insights in genome diversity". Genome Research. 16 (8): 949–61. doi:10.1101/gr.3677206. PMID 16809666.
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. (August 2002). "Recent segmental duplications in the human genome". Science. 297 (5583): 1003–7. Bibcode:2002Sci...297.1003B. doi:10.1126/science.1072047. PMID 12169732. S2CID 16501865.
Jacobs PA, Browne C, Gregson N, Joyce C, White H (February 1992). "Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding". Journal of Medical Genetics. 29 (2): 103–8. doi:10.1136/jmg.29.2.103. PMC 1015848. PMID 1613759.
Inoue K, Lupski JR (2002). "Molecular mechanisms for genomic disorders". Annual Review of Genomics and Human Genetics. 3: 199–242. doi:10.1146/annurev.genom.3.032802.120023. PMID 12142364.
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. (September 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–51. doi:10.1038/ng1416. PMID 15286789.
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, et al. (July 2005). "Fine-scale structural variation of the human genome". Nature Genetics. 37 (7): 727–32. doi:10.1038/ng1562. PMID 15895083. S2CID 14162962.
Conrad B, Antonarakis SE (2007). "Gene duplication: a drive for phenotypic diversity and cause of human disease". Annual Review of Genomics and Human Genetics. 8: 17–35. doi:10.1146/annurev.genom.8.021307.110233. PMID 17386002.
Alkan C, Coe BP, Eichler EE (May 2011). "Genome structural variation discovery and genotyping". Nature Reviews. Genetics. 12 (5): 363–76. doi:10.1038/nrg2958. PMC 4108431. PMID 21358748.
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015). "An integrated map of structural variation in 2,504 human genomes". Nature. 526 (7571): 75–81. Bibcode:2015Natur.526...75.. doi:10.1038/nature15394. PMC 4617611. PMID 26432246.
Pâques F, Haber JE (June 1999). "Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae". Microbiology and Molecular Biology Reviews. 63 (2): 349–404. doi:10.1128/MMBR.63.2.349-404.1999. PMC 98970. PMID 10357855.
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, et al. (June 2008). "Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair". Genome Research. 18 (6): 847–58. doi:10.1101/gr.075903.107. PMC 2413152. PMID 18385275.
Kobayashi T, Ganley AR (September 2005). "Recombination regulation by transcription-induced cohesin dissociation in rDNA repeats". Science. 309 (5740): 1581–4. Bibcode:2005Sci...309.1581K. doi:10.1126/science.1116102. PMID 16141077. S2CID 21547462.
Lieber MR (January 2008). "The mechanism of human nonhomologous DNA end joining". The Journal of Biological Chemistry. 283 (1): 1–5. doi:10.1074/jbc.R700039200. PMID 17999957.
McCLINTOCK B (1951). "Chromosome organization and genic expression". Cold Spring Harbor Symposia on Quantitative Biology. 16: 13–47. doi:10.1101/sqb.1951.016.01.004. PMID 14942727.
Smith CE, Llorente B, Symington LS (May 2007). "Template switching during break-induced replication". Nature. 447 (7140): 102–5. Bibcode:2007Natur.447..102S. doi:10.1038/nature05723. PMID 17410126. S2CID 7427921.
Bi X, Liu LF (January 1994). "recA-independent and recA-dependent intramolecular plasmid recombination. Differential homology requirement and distance effect". Journal of Molecular Biology. 235 (2): 414–23. doi:10.1006/jmbi.1994.1002. PMID 8289271.
Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, Gerstein MB (June 2008). "The current excitement about copy-number variation: how it relates to gene duplications and protein families". Current Opinion in Structural Biology. 18 (3): 366–74. doi:10.1016/j.sbi.2008.02.005. PMC 2577873. PMID 18511261.
Samuelson LC, Wiebauer K, Snow CM, Meisler MH (June 1990). "Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution". Molecular and Cellular Biology. 10 (6): 2513–20. doi:10.1128/mcb.10.6.2513. PMC 360608. PMID 1692956.
Rohrback S, Siddoway B, Liu CS, Chun J (November 2018). "Genomic mosaicism in the developing and adult brain". Developmental Neurobiology. 78 (11): 1026–1048. doi:10.1002/dneu.22626. PMC 6214721. PMID 30027562.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, et al. (October 2003). "alpha-Synuclein locus triplication causes Parkinson's disease". Science. 302 (5646): 841. doi:10.1126/science.1090278. PMID 14593171. S2CID 85938327.
Brownstein, CA; Smith, RS; Rodan, LH; Gorman, MP; Hojlo, MA; Garvey, EA; Li, J; Cabral, K; Bowen, JJ; Rao, AS; Genetti, CA; Carroll, D; Deaso, EA; Agrawal, PB; Rosenfeld, JA; Bi, W; Howe, J; Stavropoulos, DJ; Hansen, AW; Hamoda, HM; Pinard, F; Caracansi, A; Walsh, CA; D'Angelo, EJ; Beggs, AH; Zarrei, M; Gibbs, RA; Scherer, SW; Glahn, DC; Gonzalez-Heydrich, J (17 February 2021). "RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes". Molecular Psychiatry. 26 (5): 1706–1718. doi:10.1038/s41380-021-01035-y. PMC 8159744. PMID 33597717.
Goodman M, Koop BF, Czelusniak J, Weiss ML (December 1984). "The eta-globin gene. Its long evolutionary history in the beta-globin gene family of mammals". Journal of Molecular Biology. 180 (4): 803–23. doi:10.1016/0022-2836(84)90258-4. PMID 6527390.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. (November 2006). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–54. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
Kim PM, Korbel JO, Gerstein MB (December 2007). "Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context". Proceedings of the National Academy of Sciences of the United States of America. 104 (51): 20274–9. Bibcode:2007PNAS..10420274K. doi:10.1073/pnas.0710183104. PMC 2154421. PMID 18077332.

handle.net

hdl.handle.net

Zarrei M, MacDonald JR, Merico D, Scherer SW (March 2015). "A copy number variation map of the human genome". Nature Reviews. Genetics. 16 (3): 172–83. doi:10.1038/nrg3871. hdl:2027.42/146425. PMID 25645873. S2CID 19697843.
"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group" (PDF). Cell. 72 (6): 971–83. March 1993. doi:10.1016/0092-8674(93)90585-e. hdl:2027.42/30901. PMID 8458085. S2CID 802885.

harvard.edu

ui.adsabs.harvard.edu

Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. (August 2002). "Recent segmental duplications in the human genome". Science. 297 (5583): 1003–7. Bibcode:2002Sci...297.1003B. doi:10.1126/science.1072047. PMID 12169732. S2CID 16501865.
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015). "An integrated map of structural variation in 2,504 human genomes". Nature. 526 (7571): 75–81. Bibcode:2015Natur.526...75.. doi:10.1038/nature15394. PMC 4617611. PMID 26432246.
Kobayashi T, Ganley AR (September 2005). "Recombination regulation by transcription-induced cohesin dissociation in rDNA repeats". Science. 309 (5740): 1581–4. Bibcode:2005Sci...309.1581K. doi:10.1126/science.1116102. PMID 16141077. S2CID 21547462.
Smith CE, Llorente B, Symington LS (May 2007). "Template switching during break-induced replication". Nature. 447 (7140): 102–5. Bibcode:2007Natur.447..102S. doi:10.1038/nature05723. PMID 17410126. S2CID 7427921.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. (November 2006). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–54. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
Kim PM, Korbel JO, Gerstein MB (December 2007). "Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context". Proceedings of the National Academy of Sciences of the United States of America. 104 (51): 20274–9. Bibcode:2007PNAS..10420274K. doi:10.1073/pnas.0710183104. PMC 2154421. PMID 18077332.

nih.gov

pubmed.ncbi.nlm.nih.gov

McCarroll SA, Altshuler DM (July 2007). "Copy-number variation and association studies of human disease". Nature Genetics. 39 (7 Suppl): S37-42. doi:10.1038/ng2080. PMID 17597780. S2CID 8521333.
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, et al. (July 2005). "Segmental duplications and copy-number variation in the human genome". American Journal of Human Genetics. 77 (1): 78–88. doi:10.1086/431652. PMC 1226196. PMID 15918152.
de Koning AP, Gu W, Castoe TA, Batzer MA, Pollock DD (December 2011). "Repetitive elements may comprise over two-thirds of the human genome". PLOS Genetics. 7 (12): e1002384. doi:10.1371/journal.pgen.1002384. PMC 3228813. PMID 22144907.
Zarrei M, MacDonald JR, Merico D, Scherer SW (March 2015). "A copy number variation map of the human genome". Nature Reviews. Genetics. 16 (3): 172–83. doi:10.1038/nrg3871. hdl:2027.42/146425. PMID 25645873. S2CID 19697843.
Hastings PJ, Lupski JR, Rosenberg SM, Ira G (August 2009). "Mechanisms of change in gene copy number". Nature Reviews. Genetics. 10 (8): 551–64. doi:10.1038/nrg2593. PMC 2864001. PMID 19597530.
"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group" (PDF). Cell. 72 (6): 971–83. March 1993. doi:10.1016/0092-8674(93)90585-e. hdl:2027.42/30901. PMID 8458085. S2CID 802885.
Myers RH (April 2004). "Huntington's disease genetics". NeuroRx. 1 (2): 255–62. doi:10.1602/neurorx.1.2.255. PMC 534940. PMID 15717026.
Albertini AM, Hofer M, Calos MP, Miller JH (June 1982). "On the formation of spontaneous deletions: the importance of short sequence homologies in the generation of large deletions". Cell. 29 (2): 319–28. doi:10.1016/0092-8674(82)90148-9. PMID 6288254. S2CID 36657944.
Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, et al. (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015. PMID 17828263.
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, et al. (August 2006). "Copy number variation: new insights in genome diversity". Genome Research. 16 (8): 949–61. doi:10.1101/gr.3677206. PMID 16809666.
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. (August 2002). "Recent segmental duplications in the human genome". Science. 297 (5583): 1003–7. Bibcode:2002Sci...297.1003B. doi:10.1126/science.1072047. PMID 12169732. S2CID 16501865.
Jacobs PA, Browne C, Gregson N, Joyce C, White H (February 1992). "Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding". Journal of Medical Genetics. 29 (2): 103–8. doi:10.1136/jmg.29.2.103. PMC 1015848. PMID 1613759.
Inoue K, Lupski JR (2002). "Molecular mechanisms for genomic disorders". Annual Review of Genomics and Human Genetics. 3: 199–242. doi:10.1146/annurev.genom.3.032802.120023. PMID 12142364.
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. (September 2004). "Detection of large-scale variation in the human genome". Nature Genetics. 36 (9): 949–51. doi:10.1038/ng1416. PMID 15286789.
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, et al. (July 2005). "Fine-scale structural variation of the human genome". Nature Genetics. 37 (7): 727–32. doi:10.1038/ng1562. PMID 15895083. S2CID 14162962.
Conrad B, Antonarakis SE (2007). "Gene duplication: a drive for phenotypic diversity and cause of human disease". Annual Review of Genomics and Human Genetics. 8: 17–35. doi:10.1146/annurev.genom.8.021307.110233. PMID 17386002.
Alkan C, Coe BP, Eichler EE (May 2011). "Genome structural variation discovery and genotyping". Nature Reviews. Genetics. 12 (5): 363–76. doi:10.1038/nrg2958. PMC 4108431. PMID 21358748.
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015). "An integrated map of structural variation in 2,504 human genomes". Nature. 526 (7571): 75–81. Bibcode:2015Natur.526...75.. doi:10.1038/nature15394. PMC 4617611. PMID 26432246.
Pâques F, Haber JE (June 1999). "Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae". Microbiology and Molecular Biology Reviews. 63 (2): 349–404. doi:10.1128/MMBR.63.2.349-404.1999. PMC 98970. PMID 10357855.
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, et al. (June 2008). "Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair". Genome Research. 18 (6): 847–58. doi:10.1101/gr.075903.107. PMC 2413152. PMID 18385275.
Kobayashi T, Ganley AR (September 2005). "Recombination regulation by transcription-induced cohesin dissociation in rDNA repeats". Science. 309 (5740): 1581–4. Bibcode:2005Sci...309.1581K. doi:10.1126/science.1116102. PMID 16141077. S2CID 21547462.
Lieber MR (January 2008). "The mechanism of human nonhomologous DNA end joining". The Journal of Biological Chemistry. 283 (1): 1–5. doi:10.1074/jbc.R700039200. PMID 17999957.
McCLINTOCK B (1951). "Chromosome organization and genic expression". Cold Spring Harbor Symposia on Quantitative Biology. 16: 13–47. doi:10.1101/sqb.1951.016.01.004. PMID 14942727.
Smith CE, Llorente B, Symington LS (May 2007). "Template switching during break-induced replication". Nature. 447 (7140): 102–5. Bibcode:2007Natur.447..102S. doi:10.1038/nature05723. PMID 17410126. S2CID 7427921.
Bi X, Liu LF (January 1994). "recA-independent and recA-dependent intramolecular plasmid recombination. Differential homology requirement and distance effect". Journal of Molecular Biology. 235 (2): 414–23. doi:10.1006/jmbi.1994.1002. PMID 8289271.
Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, Gerstein MB (June 2008). "The current excitement about copy-number variation: how it relates to gene duplications and protein families". Current Opinion in Structural Biology. 18 (3): 366–74. doi:10.1016/j.sbi.2008.02.005. PMC 2577873. PMID 18511261.
Samuelson LC, Wiebauer K, Snow CM, Meisler MH (June 1990). "Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution". Molecular and Cellular Biology. 10 (6): 2513–20. doi:10.1128/mcb.10.6.2513. PMC 360608. PMID 1692956.
Rohrback S, Siddoway B, Liu CS, Chun J (November 2018). "Genomic mosaicism in the developing and adult brain". Developmental Neurobiology. 78 (11): 1026–1048. doi:10.1002/dneu.22626. PMC 6214721. PMID 30027562.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, et al. (October 2003). "alpha-Synuclein locus triplication causes Parkinson's disease". Science. 302 (5646): 841. doi:10.1126/science.1090278. PMID 14593171. S2CID 85938327.
Brownstein, CA; Smith, RS; Rodan, LH; Gorman, MP; Hojlo, MA; Garvey, EA; Li, J; Cabral, K; Bowen, JJ; Rao, AS; Genetti, CA; Carroll, D; Deaso, EA; Agrawal, PB; Rosenfeld, JA; Bi, W; Howe, J; Stavropoulos, DJ; Hansen, AW; Hamoda, HM; Pinard, F; Caracansi, A; Walsh, CA; D'Angelo, EJ; Beggs, AH; Zarrei, M; Gibbs, RA; Scherer, SW; Glahn, DC; Gonzalez-Heydrich, J (17 February 2021). "RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes". Molecular Psychiatry. 26 (5): 1706–1718. doi:10.1038/s41380-021-01035-y. PMC 8159744. PMID 33597717.
Goodman M, Koop BF, Czelusniak J, Weiss ML (December 1984). "The eta-globin gene. Its long evolutionary history in the beta-globin gene family of mammals". Journal of Molecular Biology. 180 (4): 803–23. doi:10.1016/0022-2836(84)90258-4. PMID 6527390.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. (November 2006). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–54. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
Kim PM, Korbel JO, Gerstein MB (December 2007). "Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context". Proceedings of the National Academy of Sciences of the United States of America. 104 (51): 20274–9. Bibcode:2007PNAS..10420274K. doi:10.1073/pnas.0710183104. PMC 2154421. PMID 18077332.

ncbi.nlm.nih.gov

Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, et al. (July 2005). "Segmental duplications and copy-number variation in the human genome". American Journal of Human Genetics. 77 (1): 78–88. doi:10.1086/431652. PMC 1226196. PMID 15918152.
de Koning AP, Gu W, Castoe TA, Batzer MA, Pollock DD (December 2011). "Repetitive elements may comprise over two-thirds of the human genome". PLOS Genetics. 7 (12): e1002384. doi:10.1371/journal.pgen.1002384. PMC 3228813. PMID 22144907.
Hastings PJ, Lupski JR, Rosenberg SM, Ira G (August 2009). "Mechanisms of change in gene copy number". Nature Reviews. Genetics. 10 (8): 551–64. doi:10.1038/nrg2593. PMC 2864001. PMID 19597530.
Myers RH (April 2004). "Huntington's disease genetics". NeuroRx. 1 (2): 255–62. doi:10.1602/neurorx.1.2.255. PMC 534940. PMID 15717026.
Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, et al. (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015. PMID 17828263.
Jacobs PA, Browne C, Gregson N, Joyce C, White H (February 1992). "Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding". Journal of Medical Genetics. 29 (2): 103–8. doi:10.1136/jmg.29.2.103. PMC 1015848. PMID 1613759.
Alkan C, Coe BP, Eichler EE (May 2011). "Genome structural variation discovery and genotyping". Nature Reviews. Genetics. 12 (5): 363–76. doi:10.1038/nrg2958. PMC 4108431. PMID 21358748.
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015). "An integrated map of structural variation in 2,504 human genomes". Nature. 526 (7571): 75–81. Bibcode:2015Natur.526...75.. doi:10.1038/nature15394. PMC 4617611. PMID 26432246.
Pâques F, Haber JE (June 1999). "Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae". Microbiology and Molecular Biology Reviews. 63 (2): 349–404. doi:10.1128/MMBR.63.2.349-404.1999. PMC 98970. PMID 10357855.
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, et al. (June 2008). "Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair". Genome Research. 18 (6): 847–58. doi:10.1101/gr.075903.107. PMC 2413152. PMID 18385275.
Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, Gerstein MB (June 2008). "The current excitement about copy-number variation: how it relates to gene duplications and protein families". Current Opinion in Structural Biology. 18 (3): 366–74. doi:10.1016/j.sbi.2008.02.005. PMC 2577873. PMID 18511261.
Samuelson LC, Wiebauer K, Snow CM, Meisler MH (June 1990). "Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution". Molecular and Cellular Biology. 10 (6): 2513–20. doi:10.1128/mcb.10.6.2513. PMC 360608. PMID 1692956.
Rohrback S, Siddoway B, Liu CS, Chun J (November 2018). "Genomic mosaicism in the developing and adult brain". Developmental Neurobiology. 78 (11): 1026–1048. doi:10.1002/dneu.22626. PMC 6214721. PMID 30027562.
Brownstein, CA; Smith, RS; Rodan, LH; Gorman, MP; Hojlo, MA; Garvey, EA; Li, J; Cabral, K; Bowen, JJ; Rao, AS; Genetti, CA; Carroll, D; Deaso, EA; Agrawal, PB; Rosenfeld, JA; Bi, W; Howe, J; Stavropoulos, DJ; Hansen, AW; Hamoda, HM; Pinard, F; Caracansi, A; Walsh, CA; D'Angelo, EJ; Beggs, AH; Zarrei, M; Gibbs, RA; Scherer, SW; Glahn, DC; Gonzalez-Heydrich, J (17 February 2021). "RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes". Molecular Psychiatry. 26 (5): 1706–1718. doi:10.1038/s41380-021-01035-y. PMC 8159744. PMID 33597717.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. (November 2006). "Global variation in copy number in the human genome". Nature. 444 (7118): 444–54. Bibcode:2006Natur.444..444R. doi:10.1038/nature05329. PMC 2669898. PMID 17122850.
Kim PM, Korbel JO, Gerstein MB (December 2007). "Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context". Proceedings of the National Academy of Sciences of the United States of America. 104 (51): 20274–9. Bibcode:2007PNAS..10420274K. doi:10.1073/pnas.0710183104. PMC 2154421. PMID 18077332.

semanticscholar.org

api.semanticscholar.org

McCarroll SA, Altshuler DM (July 2007). "Copy-number variation and association studies of human disease". Nature Genetics. 39 (7 Suppl): S37-42. doi:10.1038/ng2080. PMID 17597780. S2CID 8521333.
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umich.edu

deepblue.lib.umich.edu

"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group" (PDF). Cell. 72 (6): 971–83. March 1993. doi:10.1016/0092-8674(93)90585-e. hdl:2027.42/30901. PMID 8458085. S2CID 802885.

zenodo.org

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, et al. (October 2003). "alpha-Synuclein locus triplication causes Parkinson's disease". Science. 302 (5646): 841. doi:10.1126/science.1090278. PMID 14593171. S2CID 85938327.