322 related articles for article (PubMed ID: 29405991)
21. Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
Tamura T; Yamamoto Shimojima K; Okamoto N; Yagasaki H; Morioka I; Kanno H; Minakuchi Y; Toyoda A; Yamamoto T
Am J Med Genet A; 2023 Jan; 191(1):112-119. PubMed ID: 36282026
[TBL] [Abstract][Full Text] [Related]
22. Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases.
Greer SU; Nadauld LD; Lau BT; Chen J; Wood-Bouwens C; Ford JM; Kuo CJ; Ji HP
Genome Med; 2017 Jun; 9(1):57. PubMed ID: 28629429
[TBL] [Abstract][Full Text] [Related]
23. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
[TBL] [Abstract][Full Text] [Related]
24. Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T; Neveling K; Pebrel-Richard C; Benoist M; van der Zande G; Kater-Baats E; Baatout I; van Beek R; Yammine T; Oorsprong M; Hsoumi F; Olde-Weghuis D; Majdali W; Vermeulen S; Pauper M; Lebbar A; Stevens-Kroef M; Sanlaville D; Dupont JM; Smeets D; Hoischen A; Schluth-Bolard C; El Khattabi L
Am J Hum Genet; 2021 Aug; 108(8):1409-1422. PubMed ID: 34237280
[TBL] [Abstract][Full Text] [Related]
25. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
Schluth-Bolard C; Labalme A; Cordier MP; Till M; Nadeau G; Tevissen H; Lesca G; Boutry-Kryza N; Rossignol S; Rocas D; Dubruc E; Edery P; Sanlaville D
J Med Genet; 2013 Mar; 50(3):144-50. PubMed ID: 23315544
[TBL] [Abstract][Full Text] [Related]
26. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Talkowski ME; Ernst C; Heilbut A; Chiang C; Hanscom C; Lindgren A; Kirby A; Liu S; Muddukrishna B; Ohsumi TK; Shen Y; Borowsky M; Daly MJ; Morton CC; Gusella JF
Am J Hum Genet; 2011 Apr; 88(4):469-81. PubMed ID: 21473983
[TBL] [Abstract][Full Text] [Related]
27. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Ordulu Z; Kammin T; Brand H; Pillalamarri V; Redin CE; Collins RL; Blumenthal I; Hanscom C; Pereira S; Bradley I; Crandall BF; Gerrol P; Hayden MA; Hussain N; Kanengisser-Pines B; Kantarci S; Levy B; Macera MJ; Quintero-Rivera F; Spiegel E; Stevens B; Ulm JE; Warburton D; Wilkins-Haug LE; Yachelevich N; Gusella JF; Talkowski ME; Morton CC
Am J Hum Genet; 2016 Nov; 99(5):1015-1033. PubMed ID: 27745839
[TBL] [Abstract][Full Text] [Related]
28. A pipeline for complete characterization of complex germline rearrangements from long DNA reads.
Mitsuhashi S; Ohori S; Katoh K; Frith MC; Matsumoto N
Genome Med; 2020 Jul; 12(1):67. PubMed ID: 32731881
[TBL] [Abstract][Full Text] [Related]
29. Addition of chromosomal microarray and next generation sequencing to FISH and classical cytogenetics enhances genomic profiling of myeloid malignancies.
Mukherjee S; Sathanoori M; Ma Z; Andreatta M; Lennon PA; Wheeler SR; Prescott JL; Coldren C; Casey T; Rietz H; Fasig K; Woodford R; Hartley T; Spence D; Donnelan W; Berdeja J; Flinn I; Kozyr N; Bouzyk M; Correll M; Ho H; Kravtsov V; Tunnel D; Chandra P
Cancer Genet; 2017 Oct; 216-217():128-141. PubMed ID: 29025587
[TBL] [Abstract][Full Text] [Related]
30. Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
Fu F; Chen F; Li R; Zhang Y; Pan M; Li D; Liao C
Nephrol Dial Transplant; 2016 Oct; 31(10):1693-8. PubMed ID: 26932690
[TBL] [Abstract][Full Text] [Related]
31. Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines.
Hampton OA; Koriabine M; Miller CA; Coarfa C; Li J; Den Hollander P; Schoenherr C; Carbone L; Nefedov M; Ten Hallers BF; Lee AV; De Jong PJ; Milosavljevic A
Cancer Genet; 2011 Aug; 204(8):447-57. PubMed ID: 21962895
[TBL] [Abstract][Full Text] [Related]
32. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.
Brand H; Pillalamarri V; Collins RL; Eggert S; O'Dushlaine C; Braaten EB; Stone MR; Chambert K; Doty ND; Hanscom C; Rosenfeld JA; Ditmars H; Blais J; Mills R; Lee C; Gusella JF; McCarroll S; Smoller JW; Talkowski ME; Doyle AE
Am J Hum Genet; 2014 Oct; 95(4):454-61. PubMed ID: 25279985
[TBL] [Abstract][Full Text] [Related]
33. Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters.
Clark BE; Shooter C; Smith F; Brawand D; Thein SL
Int J Lab Hematol; 2017 May; 39 Suppl 1():111-120. PubMed ID: 28447426
[TBL] [Abstract][Full Text] [Related]
34. Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries.
Currall BB; Antolik CW; Collins RL; Talkowski ME
Methods Mol Biol; 2019; 1885():251-265. PubMed ID: 30506203
[TBL] [Abstract][Full Text] [Related]
35. Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Michaelson-Cohen R; Murik O; Zeligson S; Lobel O; Weiss O; Picard E; Mann T; Mor-Shaked H; Zeevi DA; Segel R
Mol Genet Genomics; 2022 Jul; 297(4):925-933. PubMed ID: 35488049
[TBL] [Abstract][Full Text] [Related]
36. Detection and screening of chromosomal rearrangements in uterine leiomyomas by long-distance inverse PCR.
Pradhan B; Sarvilinna N; Matilainen J; Aska E; Sjöberg J; Kauppi L
Genes Chromosomes Cancer; 2016 Mar; 55(3):215-26. PubMed ID: 26608380
[TBL] [Abstract][Full Text] [Related]
37. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Mäkitie O; Nordgren A; Vezzi F; Wirta V; Käller M; Hjortshøj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tümer Z; Lindstrand A
PLoS Genet; 2018 Nov; 14(11):e1007780. PubMed ID: 30419018
[TBL] [Abstract][Full Text] [Related]
38. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Wang M; Beck CR; English AC; Meng Q; Buhay C; Han Y; Doddapaneni HV; Yu F; Boerwinkle E; Lupski JR; Muzny DM; Gibbs RA
BMC Genomics; 2015 Mar; 16(1):214. PubMed ID: 25887218
[TBL] [Abstract][Full Text] [Related]
39. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Aristidou C; Koufaris C; Theodosiou A; Bak M; Mehrjouy MM; Behjati F; Tanteles G; Christophidou-Anastasiadou V; Tommerup N; Sismani C
PLoS One; 2017; 12(1):e0169935. PubMed ID: 28072833
[TBL] [Abstract][Full Text] [Related]
40. Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Sobreira NL; Gnanakkan V; Walsh M; Marosy B; Wohler E; Thomas G; Hoover-Fong JE; Hamosh A; Wheelan SJ; Valle D
Genome Res; 2011 Oct; 21(10):1720-7. PubMed ID: 21890680
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
