These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

331 related articles for article (PubMed ID: 30419018)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Deciphering the complexity of simple chromosomal insertions by genome sequencing.
    Dong Z; Chau MHK; Zhang Y; Dai P; Zhu X; Leung TY; Kong X; Kwok YK; Stankiewicz P; Cheung SW; Choy KW
    Hum Genet; 2021 Feb; 140(2):361-380. PubMed ID: 32728808
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
    Kloosterman WP; Tavakoli-Yaraki M; van Roosmalen MJ; van Binsbergen E; Renkens I; Duran K; Ballarati L; Vergult S; Giardino D; Hansson K; Ruivenkamp CA; Jager M; van Haeringen A; Ippel EF; Haaf T; Passarge E; Hochstenbach R; Menten B; Larizza L; Guryev V; Poot M; Cuppen E
    Cell Rep; 2012 Jun; 1(6):648-55. PubMed ID: 22813740
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
    Bahrambeigi V; Song X; Sperle K; Beck CR; Hijazi H; Grochowski CM; Gu S; Seeman P; Woodward KJ; Carvalho CMB; Hobson GM; Lupski JR
    Genome Med; 2019 Dec; 11(1):80. PubMed ID: 31818324
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.
    Kato T; Ouchi Y; Inagaki H; Makita Y; Mizuno S; Kajita M; Ikeda T; Takeuchi K; Kurahashi H
    Cytogenet Genome Res; 2017; 153(1):1-9. PubMed ID: 29073611
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.
    Xiao B; Ye X; Wang L; Fan Y; Gu X; Ji X; Sun Y; Yu Y
    Front Genet; 2020; 11():616. PubMed ID: 32733533
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.
    Hattori A; Okamura K; Terada Y; Tanaka R; Katoh-Fukui Y; Matsubara Y; Matsubara K; Kagami M; Horikawa R; Fukami M
    BMC Med Genomics; 2019 May; 12(1):77. PubMed ID: 31138192
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.
    Masset H; Hestand MS; Van Esch H; Kleinfinger P; Plaisancié J; Afenjar A; Molignier R; Schluth-Bolard C; Sanlaville D; Vermeesch JR
    Hum Mutat; 2016 Jul; 37(7):661-8. PubMed ID: 26936114
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
    Brand H; Collins RL; Hanscom C; Rosenfeld JA; Pillalamarri V; Stone MR; Kelley F; Mason T; Margolin L; Eggert S; Mitchell E; Hodge JC; Gusella JF; Sanders SJ; Talkowski ME
    Am J Hum Genet; 2015 Jul; 97(1):170-6. PubMed ID: 26094575
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mechanisms for Complex Chromosomal Insertions.
    Gu S; Szafranski P; Akdemir ZC; Yuan B; Cooper ML; Magriñá MA; Bacino CA; Lalani SR; Breman AM; Smith JL; Patel A; Song RH; Bi W; Cheung SW; Carvalho CM; Stankiewicz P; Lupski JR
    PLoS Genet; 2016 Nov; 12(11):e1006446. PubMed ID: 27880765
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human Structural Variation: Mechanisms of Chromosome Rearrangements.
    Weckselblatt B; Rudd MK
    Trends Genet; 2015 Oct; 31(10):587-599. PubMed ID: 26209074
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
    Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
    Am J Med Genet A; 2020 May; 182(5):1143-1151. PubMed ID: 32125084
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.
    Cardoso-Moreira M; Arguello JR; Clark AG
    Genome Biol; 2012 Dec; 13(12):R119. PubMed ID: 23259534
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.
    Lloveras E; Canellas A; Plaja A; Barranco L; Fernández D; Mendez B; Piqué M; de la Iglesia C; Palau N; Costa M; Herrero M; Yeste D; Auge M; Puig L; Pérez C
    Cytogenet Genome Res; 2021; 161(5):236-242. PubMed ID: 34274931
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.
    Weckselblatt B; Hermetz KE; Rudd MK
    Genome Res; 2015 Jul; 25(7):937-47. PubMed ID: 26070663
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.