Genomic disorders ten years on

Genome Medicine

Volumn 1, Issue 4, 2009, Pages

  Lupski, James R ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; METHYL CPG BINDING PROTEIN 2; PERIPHERAL MYELIN PROTEIN 22;

ARTICLE; BASE PAIRING; CYTOGENETICS; DNA SEQUENCE; GENE CONVERSION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; GENOME; GENOMIC INSTABILITY; GENOMICS; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOLOGOUS RECOMBINATION; HUMAN; IN SITU HYBRIDIZATION; KARYOTYPE; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; SYNDROME DELINEATION; WILLIAMS BEUREN SYNDROME;

EID: 67649973564     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm42     Document Type: Article

References (158)

1. Online Mendelian Inheritance in Man [http;//www.ncbi.nlm.nih.gov/sites/entrez?db=omim]
2. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991, 66:219-232.
3. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991, 1:93-97.
4. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993, 72:143-151.
5. Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI: Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992, 1:29-33.
6. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U: The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992, 1:159-165.
7. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR: Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993, 329:96-101.
8. Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, Mcleod JG, Bolhuis PA, Baas F: A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994, 6:263-266.
9. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992, 2:292-300.
10. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994, 3:223-228.
11. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999, 8:1157-1167.
12. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE: Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 2001, 11:1005-1017.
13. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE: Recent segmental duplications in the human genome. Science 2002, 297:1003-1007.
14. Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 2002, 18:74-82.
15. Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 1996, 12:288-297.
16. Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C: Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 1997, 34:43-49.
17. Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE: Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet 1994, 54:1110-1121.
18. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR: Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(p11.2). Am J Hum Genet 1991, 49:1207-1218.
19. Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI: Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics 1992, 13:551-559.
20. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI: Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 1996, 58:998-1007.
21. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997, 17:154-163.
22. Shaw CJ, Bi W, Lupski JR: Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 2002, 71:1072-1081.
23. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR: Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 2003, 73:1302-1315.
24. Lupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998, 14:417-422.
25. Phillips JA 3rd, Vik TA, Scott AF, Young KE, Kazazian HH Jr, Smith KD, Fairbanks VF, Koenig HM: Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease. Blood 1980, 55:1066-1069.
26. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human alpha-globin gene cluster. Blood 1989, 73:1081-1104.
27. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS: Molecular genetics of inherited variation in human color vision. Science 1986, 232:203-210.
28. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR: Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000, 24:84-87.
29. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR: Characterization of Potocki-Lupski syndrome (dup(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007, 80:633-649.
30. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM: Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003, 73:1027-1040.
31. Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ: A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 2004, 65:400-404.
32. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005, 76:865-876.
33. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR: Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 2005, 353:1694-1701.
34. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW: Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007, 9:427-441.
35. Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, LeGuern E, Leboyer M, Brice A: Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet 2007, 44:452-458.
36. Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M: A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 2007, 50:256-263.
37. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T: MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet 2007, 50:33-42.
38. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A: 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 2008, 82:214-221.
39. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A: Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 2008, 10:267-277.
40. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
41. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, et al.: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008, 40:1466-1471.
42. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008, 1:8.
43. Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitz-Patrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL: 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005, 77:154-160.
44. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, et al.: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359:1685-1699.
45. International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome. Nature 2001, 409: 860-921.
46. International Human Genome Sequencing Consortium: The Sequence of the human genome. Science 2001, 291:1304-1351.
47. International Human Genome Sequencing Consortium: Finishing the euchromatic sequence of the human genome. Nature 2004, 431:931-945.
48. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG: Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001, 29:263-264.
49. Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005, 77:78-88.
50. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006, 38:1038-1042.
51. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006, 38:999-1001.
52. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP: Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006, 38:1032-1037.
53. Lupski JR: Genome structural variation and sporadic disease traits. Nat Genet 2006, 38:974-976.
54. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, RoomsL, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, et al.: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008, 45:710-720.
55. Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE: Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007, 16:567-572.
56. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007, 81:1057-1069.
57. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, et al.: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008, 40:322-328.
58. Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005, 54:3126-3132.
59. International Schizophrenia Consortium: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455:237-241.
60. Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, et al.: Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:232-236.
61. Lupski JR: Schizophrenia: incriminating genomic evidence. Nature 2008, 455:178-179.
62. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, et al.: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009, 41:160-162.
63. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih M, Soul J, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff P, Yusupov R, Gusella JF, Daly MJ, Wu BL: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2008, 46:242-248.
64. Ben-Shachar S, Lanpher B, German JR, Potocki L, Nagamani SCS, Franco LM, El-Hhakam LM, Freedenberg D, Bottenfield GW, Spence JE, Shaw, C.A., Patel, A., Cheung, S. W., Lupski, J. R., Beaudet, A. L., Sahoo, T: Recurrent 15q13.3 microdeletions are associated with autism and a wide variety of neurodevelopmental phenotypes. J Med Genet, in press.
65. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL: Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
66. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK: The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005, 307:1434-1440.
67. Fellermann K, Wehkamp J, Herrlinger KR, Stange EF: Crohn's disease: a defensin deficiency syndrome? Eur J Gastroenterol Hepatol 2003, 15:627-634.
68. Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, Radlwimmer B, Stange EF: A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006, 79:439-448.
69. McCarroll SA, Huett A, Kuballa P, Chilewski SD, Landry A, Goyette P, Zody MC, Hall JL, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Rioux JD, Altshuler D, Daly MJ, Xavier RJ: Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet 2008, 40:1107-1112.
70. Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT: Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006, 439:851-855.
71. Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J: Psoriasis is associated with increased betadefensin genomic copy number. Nat Genet 2008, 40:23-25.
72. Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ: FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007, 39:721-723.
73. Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, McGovern NN, Condliffe AM, Chilvers ER, Adu D, Jolly EC, Watts R, Lau YL, Morgan AW, Nash G, Smith KG: Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 2008, 205:1573-1582.
74. Le Marechal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Ferec C: Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 2006, 38:1372-1374.
75. Walz K, Paylor R, Yan J, Bi W, Lupski JR: Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(p11.2p11.2). J Clin Invest 2006, 116:3035-3041.
76. Lupski JR: Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol 2004, 5:242.
77. The International HapMap Consortium: A haplotype map of the human genome. Nature 2005, 437:1299-1320.
78. The International HapMap Consortium: A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
79. Myers SR, McCarroll SA: New insights into the biological basis of genomic disorders. Nat Genet 2006, 38:1363-1364.
80. Lindsay SJ, Khajavi M, Lupski JR, Hurles ME: A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet 2006, 79:890-902.
81. Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E: Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 2006, 38:1419-1423.
82. Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 1998, 62:1023-1033.
83. Lam KW, Jeffreys AJ: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci USA 2006, 103:8921-8927.
84. Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H: Genetic variation affects de novo translocation frequency. Science 2006, 311:971.
85. Lam KW, Jeffreys AJ: Processes of de novo duplication of human alpha-globin genes. Proc Natl Acad Sci USA 2007, 104:10950-10955.
86. Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H: Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. Genome Res 2009, 19:191-198.
87. Lupski JR: Genomic rearrangements and sporadic disease. Nat Genet 2007, 39:S43-S47
88. Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME: Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 2008, 40:90-95.
89. Murakami T, Reiter LT, Lupski JR: Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics 1997, 42:161-164.
90. Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR: The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet 1997, 6:1595-1603.
91. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B: The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 2001, 11:1018-1033.
92. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB: Increased MECP2 gene copy number due to genomic duplication in neurodevelopmentally delayed males. Genet Med 2006, 8:784-792.
93. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino C, Peacock S, Shaw C, Pursley A, Tavyev J, Ramocki MB, Nawara M, Obertsztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR: Complex rearrangements in MECP2 duplicated patients suggest Fork Stalling and Template Switching (FoSTeS) as a major mechanism. Hum Mol Genet, in press.
94. Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA: A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics 1999, 55:348-352.
95. Stankiewicz P, Park SS, Inoue K, Lupski JR: The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 2001, 11:1205-1210.
96. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR: Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002, 12:713-728.
97. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR: Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res 2002, 12:729-738.
98. Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR: Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res 2004, 14:2209-2220.
99. Stankiewicz P, Lupski JR: Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002, 12:312-319.
100. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 2006, 440:1045-1049.
101. Cohen J: Genomics. DNA duplications and deletions help determine health. Science 2007, 317:1315-1317.
102. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C: Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951.
103. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M: Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
104. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, Mac-Donald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F: Global variation in copy number in the human genome. Nature 2006, 444:444-454.
105. Database of Genomic Variants [http://projects.tcag.ca/variation/]
106. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004, 41:241-248.
107. Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG: Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 2005, 134:259-267.
108. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL: Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005, 7:422-432.
109. Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M: Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005, 42:699-705.
110. de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005, 77:606-616.
111. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
112. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006, 43:625-633.
113. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006, 43:180-186.
114. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA: Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006, 140:2757-2767.
115. Cheung SW, Shaw CA, Scott DA: Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Hum Genet 2007, 143:1679-1686.
116. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2007, 2:e327.
117. Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC: Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med 2008, 10:278-289.
118. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG: Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med 2007, 9:150-162.
119. Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW: Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 2008, 146A:2242-2251.
120. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005, 42:8-16.
121. Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA: Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 2008, 82:927-936.
122. Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M: Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 2006, 43:353-361.
123. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM: Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006, 8:719-727.
124. Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD: Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn 2008, 28:943-949.
125. Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR: Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn 2007, 27:1112-1117.
126. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL: Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009, 29:29-39.
127. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL: Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008, 122:1310-1318.
128. Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, et al.: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 2008, 82:432-443.
129. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG: Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 2006, 43:362-370.
130. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR: Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet 2009 [Epub ahead of print].
131. Stankiewicz P, Beaudet AL: Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007, 17:182-192.
132. The DECIPHER Database [https://decipher.sanger.ac.uk/]
133. Lee JA, Carvalho CM, Lupski JR: A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
134. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O: Duplications in the 17p13.3 Miller-Dieker syndrome region: LIS1 increased expression affects human and mouse brain development. Nat Genet 2009, 41:168-177.
135. Zhang F, Khajavi M, Connolly A, Towne CF, Batish SV, Lupski JR: The DNA replication FoSTeS/MMBIR mechanism can cause human genomic, genic, and exonic complex rearrangements. Nat Genet 2009, in press.
136. Yatsenko SA, Brundage E, Roney EK, Cheung S-W, Lupski JR: Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 2009 [Epub ahead of print].
137. Hastings PJ, Ira G, Lupski JR: A microhomology-mediated breakinduced replication model for the origin of human copy number variation. PLoS Genet 2009, 5:e1000327.
138. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988, 42:217-226.
139. Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, Campuzano V, Perez-Jurado LA: Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res 2008, 18:683-694.
140. Zhang F, Gu W, Hurles M, Lupski JR: Copy number variation in health, disease, and evolution. Annu Rev Genomics Hum Genet 2009, in press.
141. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE: AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet 2001, 68:1-13.
142. Kurahashi H, Emanuel BS: Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum Mol Genet 2001, 10:2605-2617.
143. Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004, 101:14162-14167.
144. Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 2008, 1:4.
145. Lupski JR, Stankiewicz P: Molecular mechanisms for rearrangements and their conveyed phenotypes in genomic disorders. PLoS Genet 2005, 1:627-633.
146. Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E: Genetic compensation in a human genomic disorder. N Engl J Med 2009, 360:1211-1216.
147. Lupski JR, Stankiewicz P (Eds): Genomic Disorders - The Genomic Basis of Disease. Totowa: Humana Press; 2006.
148. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, et al.: 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive benefits. J Med Genet 2009, 46:168-175.
149. Lupski JR: Structural variation in the human genome. N Engl J Med 2007, 356:1169-1171.
150. Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D: A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 1999, 64:1702-1708.
151. Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D: A chromosomal deletion map of human malformations. Am J Hum Genet 1998, 63:1153-1159.
152. Flores M, Morales L, Gonzaga-Jauregui C, Domínguez-Vidaña R, Zepeda C, Yañez O, Gutiérrez M, Lemus T, Valle D, Avila MC, Blanco D, Medina-Ruiz S, Meza K, Ayala E, García D, Bustos P, González V, Girard L, Tusie-Luna T, Dávila G, Palacios R: Recurrent DNA inversion rearrangements in the human genome. Proc Natl Acad Sci USA 2007, 104:6099-6106.
153. Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, de Ståhl TD, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP: Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008, 82:763-771.
154. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Höglund M, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T: The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet 2004, 74:1-10.
155. Carvalho CM, Lupski JR: Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 2008, 18:1724-1732.
156. Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, Stebbings LA, Leroy C, Edkins S, Hardy C, Teague JW, Menzies A, Goodhead I, Turner DJ, Clee CM, Quail MA, Cox A, Brown C, Durbin R, Hurles ME, Edwards PA, Bignell GR, Stratton MR, Futreal PA: Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 2008, 40:722-729.
157. Lupski JR, Weinstock GM: Short, interspersed repetitive DNA sequences in prokaryotic genomes. J Bacteriol 1992, 174:4525-4529.
158. Versalovic J, Koeuth T, Lupski JR: Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Research 1991, 19:6823-6831.