Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 76

1.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

2.

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW.

Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110.

3.

A human genome structural variation sequencing resource reveals insights into mutational mechanisms.

Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE.

Cell. 2010 Nov 24;143(5):837-47. doi: 10.1016/j.cell.2010.10.027.

4.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.

Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3.

PMID:
20599530
5.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
6.

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.

Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.

7.

Origins and functional impact of copy number variation in the human genome.

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

8.

A gene dosage map of Chromosome 18: a map with clinical utility.

Cody JD, Carter EM, Sebold C, Heard PL, Hale DE.

Genet Med. 2009 Nov;11(11):778-82. doi: 10.1097/GIM.0b013e3181b6573d.

PMID:
19745747
9.

Mechanisms of change in gene copy number.

Hastings PJ, Lupski JR, Rosenberg SM, Ira G.

Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Review.

10.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

11.

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR.

Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21.

12.

High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH).

Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD.

Am J Med Genet A. 2009 Jul;149A(7):1431-7. doi: 10.1002/ajmg.a.32900.

13.

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL.

Hum Mol Genet. 2009 Aug 15;18(16):2957-62. doi: 10.1093/hmg/ddp233. Epub 2009 May 14.

14.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR.

Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17.

15.

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

Arlt MF, Mulle JG, Schaibley VM, Ragland RL, Durkin SG, Warren ST, Glover TW.

Am J Hum Genet. 2009 Mar;84(3):339-50. doi: 10.1016/j.ajhg.2009.01.024. Epub 2009 Feb 19.

16.

Increased LIS1 expression affects human and mouse brain development.

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.

Nat Genet. 2009 Feb;41(2):168-77. doi: 10.1038/ng.302. Epub 2009 Jan 11.

17.

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings.

McVey M, Lee SE.

Trends Genet. 2008 Nov;24(11):529-38. doi: 10.1016/j.tig.2008.08.007. Epub 2008 Sep 21. Review.

PMID:
18809224
18.

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).

Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG.

Genome Res. 2008 Nov;18(11):1733-42. doi: 10.1101/gr.077453.108. Epub 2008 Sep 2.

19.

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

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.

Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399.

20.

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.

Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL.

Genet Med. 2008 Aug;10(8):599-611. doi: 10.1097GIM.0b013e31817e2bde.

Items per page

Supplemental Content

Write to the Help Desk