209 related articles for article (PubMed ID: 22482802)
1. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Itsara A; Vissers LE; Steinberg KM; Meyer KJ; Zody MC; Koolen DA; de Ligt J; Cuppen E; Baker C; Lee C; Graves TA; Wilson RK; Jenkins RB; Veltman JA; Eichler EE
Am J Hum Genet; 2012 Apr; 90(4):599-613. PubMed ID: 22482802
[TBL] [Abstract][Full Text] [Related]
2. A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.
Marotta M; Chen X; Inoshita A; Stephens R; Budd GT; Crowe JP; Lyons J; Kondratova A; Tubbs R; Tanaka H
Breast Cancer Res; 2012 Nov; 14(6):R150. PubMed ID: 23181561
[TBL] [Abstract][Full Text] [Related]
3. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Bengesser K; Cooper DN; Steinmann K; Kluwe L; Chuzhanova NA; Wimmer K; Tatagiba M; Tinschert S; Mautner VF; Kehrer-Sawatzki H
Hum Mutat; 2010 Jun; 31(6):742-51. PubMed ID: 20506354
[TBL] [Abstract][Full Text] [Related]
4. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Gu S; Yuan B; Campbell IM; Beck CR; Carvalho CM; Nagamani SC; Erez A; Patel A; Bacino CA; Shaw CA; Stankiewicz P; Cheung SW; Bi W; Lupski JR
Hum Mol Genet; 2015 Jul; 24(14):4061-77. PubMed ID: 25908615
[TBL] [Abstract][Full Text] [Related]
5. Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.
Nuttle X; Itsara A; Shendure J; Eichler EE
Nat Protoc; 2014; 9(6):1496-513. PubMed ID: 24874815
[TBL] [Abstract][Full Text] [Related]
6. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Newman S; Hermetz KE; Weckselblatt B; Rudd MK
Am J Hum Genet; 2015 Feb; 96(2):208-20. PubMed ID: 25640679
[TBL] [Abstract][Full Text] [Related]
7. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Yilmaz F; Gurusamy U; Mosley TJ; Hallast P; Kim K; Mostovoy Y; Purcell RH; Shaikh TH; Zwick ME; Kwok PY; Lee C; Mulle JG
Genome Med; 2023 May; 15(1):35. PubMed ID: 37165454
[TBL] [Abstract][Full Text] [Related]
8. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
Vogt J; Bengesser K; Claes KB; Wimmer K; Mautner VF; van Minkelen R; Legius E; Brems H; Upadhyaya M; Högel J; Lazaro C; Rosenbaum T; Bammert S; Messiaen L; Cooper DN; Kehrer-Sawatzki H
Genome Biol; 2014 Jun; 15(6):R80. PubMed ID: 24958239
[TBL] [Abstract][Full Text] [Related]
9. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
[TBL] [Abstract][Full Text] [Related]
10. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Yuan B; Neira J; Gu S; Harel T; Liu P; Briceño I; Elsea SH; Gómez A; Potocki L; Lupski JR
Hum Genet; 2016 Oct; 135(10):1161-74. PubMed ID: 27386852
[TBL] [Abstract][Full Text] [Related]
11. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Liu P; Lacaria M; Zhang F; Withers M; Hastings PJ; Lupski JR
Am J Hum Genet; 2011 Oct; 89(4):580-8. PubMed ID: 21981782
[TBL] [Abstract][Full Text] [Related]
12. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F; Potocki L; Sampson JB; Liu P; Sanchez-Valle A; Robbins-Furman P; Navarro AD; Wheeler PG; Spence JE; Brasington CK; Withers MA; Lupski JR
Am J Hum Genet; 2010 Mar; 86(3):462-70. PubMed ID: 20188345
[TBL] [Abstract][Full Text] [Related]
13. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
[TBL] [Abstract][Full Text] [Related]
14. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.
Shaw CJ; Withers MA; Lupski JR
Am J Hum Genet; 2004 Jul; 75(1):75-81. PubMed ID: 15148657
[TBL] [Abstract][Full Text] [Related]
15. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Vogt J; Mussotter T; Bengesser K; Claes K; Högel J; Chuzhanova N; Fu C; van den Ende J; Mautner VF; Cooper DN; Messiaen L; Kehrer-Sawatzki H
Hum Mutat; 2012 Nov; 33(11):1599-609. PubMed ID: 22837079
[TBL] [Abstract][Full Text] [Related]
16. Structural haplotypes and recent evolution of the human 17q21.31 region.
Boettger LM; Handsaker RE; Zody MC; McCarroll SA
Nat Genet; 2012 Jul; 44(8):881-5. PubMed ID: 22751096
[TBL] [Abstract][Full Text] [Related]
17. Detection of recurrent rearrangement breakpoints from copy number data.
Ritz A; Paris PL; Ittmann MM; Collins C; Raphael BJ
BMC Bioinformatics; 2011 Apr; 12():114. PubMed ID: 21510904
[TBL] [Abstract][Full Text] [Related]
18. Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome.
Quinlan AR; Clark RA; Sokolova S; Leibowitz ML; Zhang Y; Hurles ME; Mell JC; Hall IM
Genome Res; 2010 May; 20(5):623-35. PubMed ID: 20308636
[TBL] [Abstract][Full Text] [Related]
19. Analysis of copy number variations in Holstein-Friesian cow genomes based on whole-genome sequence data.
Mielczarek M; Frąszczak M; Giannico R; Minozzi G; Williams JL; Wojdak-Maksymiec K; Szyda J
J Dairy Sci; 2017 Jul; 100(7):5515-5525. PubMed ID: 28501396
[TBL] [Abstract][Full Text] [Related]
20. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
Shaw CJ; Lupski JR
Hum Genet; 2005 Jan; 116(1-2):1-7. PubMed ID: 15526218
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]