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Items: 1 to 20 of 83

1.

Child development and structural variation in the human genome.

Zhang Y, Haraksingh R, Grubert F, Abyzov A, Gerstein M, Weissman S, Urban AE.

Child Dev. 2013 Jan-Feb;84(1):34-48. doi: 10.1111/cdev.12051. Epub 2013 Jan 13. Review.

PMID:
23311762
2.

Human genome variation in health and in neuropsychiatric disorders.

Buretić-Tomljanović A, Tomljanović D.

Psychiatr Danub. 2009 Dec;21(4):562-9. Review.

3.

[Structural variation in the human genome contributes to variation of traits].

Barøy T, Misceo D, Frengen E.

Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Review. Norwegian.

4.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.

5.

Characterizing and interpreting genetic variation from personal genome sequencing.

Johansson AC, Feuk L.

Methods Mol Biol. 2012;838:343-67. doi: 10.1007/978-1-61779-507-7_17.

PMID:
22228021
6.

Detection and interpretation of genomic structural variation in health and disease.

Vandeweyer G, Kooy RF.

Expert Rev Mol Diagn. 2013 Jan;13(1):61-82. doi: 10.1586/erm.12.119. Review.

PMID:
23256704
7.

Microdeletion and microduplication syndromes.

Vissers LE, Stankiewicz P.

Methods Mol Biol. 2012;838:29-75. doi: 10.1007/978-1-61779-507-7_2.

PMID:
22228006
8.

Geographic distribution and adaptive significance of genomic structural variants: an anthropological genetics perspective.

Eaaswarkhanth M, Pavlidis P, Gokcumen O.

Hum Biol. 2014 Fall;86(4):260-75. Review.

PMID:
25959693
9.

Human genome: patchwork people.

Check E.

Nature. 2005 Oct 20;437(7062):1084-6. No abstract available.

PMID:
16237414
10.

Structural variation in the human genome and its role in disease.

Stankiewicz P, Lupski JR.

Annu Rev Med. 2010;61:437-55. doi: 10.1146/annurev-med-100708-204735. Review.

PMID:
20059347
11.

Subgroup-specific structural variation across 1,000 medulloblastoma genomes.

Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, Dubuc A, Yao Y, Ramaswamy V, Luu B, Rolider A, Cavalli FM, Wang X, Remke M, Wu X, Chiu RY, Chu A, Chuah E, Corbett RD, Hoad GR, Jackman SD, Li Y, Lo A, Mungall KL, Nip KM, Qian JQ, Raymond AG, Thiessen NT, Varhol RJ, Birol I, Moore RA, Mungall AJ, Holt R, Kawauchi D, Roussel MF, Kool M, Jones DT, Witt H, Fernandez-L A, Kenney AM, Wechsler-Reya RJ, Dirks P, Aviv T, Grajkowska WA, Perek-Polnik M, Haberler CC, Delattre O, Reynaud SS, Doz FF, Pernet-Fattet SS, Cho BK, Kim SK, Wang KC, Scheurlen W, Eberhart CG, Fèvre-Montange M, Jouvet A, Pollack IF, Fan X, Muraszko KM, Gillespie GY, Di Rocco C, Massimi L, Michiels EM, Kloosterhof NK, French PJ, Kros JM, Olson JM, Ellenbogen RG, Zitterbart K, Kren L, Thompson RC, Cooper MK, Lach B, McLendon RE, Bigner DD, Fontebasso A, Albrecht S, Jabado N, Lindsey JC, Bailey S, Gupta N, Weiss WA, Bognár L, Klekner A, Van Meter TE, Kumabe T, Tominaga T, Elbabaa SK, Leonard JR, Rubin JB, Liau LM, Van Meir EG, Fouladi M, Nakamura H, Cinalli G, Garami M, Hauser P, Saad AG, Iolascon A, Jung S, Carlotti CG, Vibhakar R, Ra YS, Robinson S, Zollo M, Faria CC, Chan JA, Levy ML, Sorensen PH, Meyerson M, Pomeroy SL, Cho YJ, Bader GD, Tabori U, Hawkins CE, Bouffet E, Scherer SW, Rutka JT, Malkin D, Clifford SC, Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD.

Nature. 2012 Aug 2;488(7409):49-56. doi: 10.1038/nature11327.

12.

A decade of structural variants: description, history and methods to detect structural variation.

Escaramís G, Docampo E, Rabionet R.

Brief Funct Genomics. 2015 Sep;14(5):305-14. doi: 10.1093/bfgp/elv014. Epub 2015 Apr 15. Review.

PMID:
25877305
13.

IS1096-mediated DNA rearrangements play a key role in genome evolution of Mycobacterium smegmatis.

Wang XM, Galamba A, Warner DF, Soetaert K, Merkel JS, Kalai M, Bifani P, Lefèvre P, Mizrahi V, Content J.

Tuberculosis (Edinb). 2008 Sep;88(5):399-409. doi: 10.1016/j.tube.2008.02.003. Epub 2008 Apr 24.

PMID:
18439874
14.

Mapping copy number variation by population-scale genome sequencing.

Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project.

Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708.

15.

[Disease susceptibility genes and genome structural abnormalities associated with developmental disabilities].

Yamamoto T.

No To Hattatsu. 2014 Mar;46(2):131-5. Review. Japanese. No abstract available.

PMID:
24738191
16.

Structural divergence between the human and chimpanzee genomes.

Kehrer-Sawatzki H, Cooper DN.

Hum Genet. 2007 Feb;120(6):759-78. Epub 2006 Oct 26. Review.

PMID:
17066299
17.

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E.

Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15.

18.

Genome-wide profiling of structural genomic variations in Korean HapMap individuals.

Bae JS, Cheong HS, Park BL, Kim LH, Han CS, Park TJ, Kim JY, Pasaje CF, Lee JS, Shin HD.

PLoS One. 2010 Jul 2;5(7):e11417. doi: 10.1371/journal.pone.0011417.

19.

Child development and molecular genetics: 14 years later.

Plomin R.

Child Dev. 2013 Jan-Feb;84(1):104-20. doi: 10.1111/j.1467-8624.2012.01757.x. Epub 2012 Mar 30. Review.

20.

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