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Items: 1 to 20 of 148

1.

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz P, State MW, Beaudet AL.

Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363. Epub 2011 Aug 24.

2.

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.

Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.

3.

Identification of copy number variants from exome sequence data.

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R.

BMC Genomics. 2014 Aug 7;15:661. doi: 10.1186/1471-2164-15-661.

4.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C.

Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1.

5.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.

6.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.

PMID:
22825934
7.

The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.

Przybytkowski E, Ferrario C, Basik M.

BMC Med Genomics. 2011 Jan 27;4:16. doi: 10.1186/1755-8794-4-16.

8.

Tourette syndrome is associated with recurrent exonic copy number variants.

Sundaram SK, Huq AM, Wilson BJ, Chugani HT.

Neurology. 2010 May 18;74(20):1583-90. doi: 10.1212/WNL.0b013e3181e0f147. Epub 2010 Apr 28.

9.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

10.

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW.

G3 (Bethesda). 2012 Dec;2(12):1665-85. doi: 10.1534/g3.112.004689. Epub 2012 Dec 1.

11.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A.

Eur J Hum Genet. 2014 Jan;22(1):79-87. doi: 10.1038/ejhg.2013.77. Epub 2013 May 22.

12.

Genomic changes detected by array CGH in human embryos with developmental defects.

Rajcan-Separovic E, Qiao Y, Tyson C, Harvard C, Fawcett C, Kalousek D, Stephenson M, Philipp T.

Mol Hum Reprod. 2010 Feb;16(2):125-34. doi: 10.1093/molehr/gap083. Epub 2009 Sep 23.

PMID:
19778950
13.

Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.

Yin CL, Chen HI, Li LH, Chien YL, Liao HM, Chou MC, Chou WJ, Tsai WC, Chiu YN, Wu YY, Lo CZ, Wu JY, Chen YT, Gau SS.

Mol Autism. 2016 Apr 1;7:23. doi: 10.1186/s13229-016-0087-7. eCollection 2016 Apr 1.

14.

De novo rates and selection of large copy number variation.

Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE.

Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14.

15.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Eur J Hum Genet. 2013 Jun;21(6):620-5. doi: 10.1038/ejhg.2012.219. Epub 2012 Oct 3.

16.

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D.

Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7.

17.

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM.

BMC Med Genomics. 2011 Mar 25;4:25. doi: 10.1186/1755-8794-4-25.

18.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-96. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

19.

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, Leppert M, Hakonarson H.

PLoS One. 2013;8(1):e52239. doi: 10.1371/journal.pone.0052239. Epub 2013 Jan 14.

20.

Evaluation of copy number variation detection for a SNP array platform.

Zhang X, Du R, Li S, Zhang F, Jin L, Wang H.

BMC Bioinformatics. 2014 Feb 21;15:50. doi: 10.1186/1471-2105-15-50.

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