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.
5. Describing structural changes by extending HGVS sequence variation nomenclature. Taschner PE; den Dunnen JT Hum Mutat; 2011 May; 32(5):507-11. PubMed ID: 21309030 [TBL] [Abstract][Full Text] [Related]
6. Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Le Scouarnec S; Gribble SM Heredity (Edinb); 2012 Jan; 108(1):75-85. PubMed ID: 22086080 [TBL] [Abstract][Full Text] [Related]
7. Massively parallel sequencing of forensic STRs: Considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements. Parson W; Ballard D; Budowle B; Butler JM; Gettings KB; Gill P; Gusmão L; Hares DR; Irwin JA; King JL; Knijff P; Morling N; Prinz M; Schneider PM; Neste CV; Willuweit S; Phillips C Forensic Sci Int Genet; 2016 May; 22():54-63. PubMed ID: 26844919 [TBL] [Abstract][Full Text] [Related]
8. CGH-Profiler: data mining based on genomic aberration profiles. Schubert F; Tausch B; Joos S; Eils R BMC Bioinformatics; 2005 Jul; 6():188. PubMed ID: 16042799 [TBL] [Abstract][Full Text] [Related]
9. SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq). Johnson SH; Smadbeck JB; Smoley SA; Gaitatzes A; Murphy SJ; Harris FR; Drucker TM; Zenka RM; Pitel BA; Rowsey RA; Hoppman NL; Aypar U; Sukov WR; Jenkins RB; Feldman AL; Kearney HM; Vasmatzis G Cancer Genet; 2018 Feb; 221():1-18. PubMed ID: 29405991 [TBL] [Abstract][Full Text] [Related]
10. Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing-Based Assays for Cancer. Callenberg KM; Santana-Santos L; Chen L; Ernst WL; De Moura MB; Nikiforov YE; Nikiforova MN; Roy S J Mol Diagn; 2018 Sep; 20(5):628-634. PubMed ID: 29936258 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Chromosomes and cancer: new nomenclature and future directions. Yunis JJ Hum Pathol; 1981 Jun; 12(6):494-503. PubMed ID: 7275092 [TBL] [Abstract][Full Text] [Related]
13. A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing. Quek K; Nones K; Patch AM; Fink JL; Newell F; Cloonan N; Miller D; Fadlullah MZ; Kassahn K; Christ AN; Bruxner TJ; Manning S; Harliwong I; Idrisoglu S; Nourse C; Nourbakhsh E; Wani S; Steptoe A; Anderson M; Holmes O; Leonard C; Taylor D; Wood S; Xu Q; ; Wilson P; Biankin AV; Pearson JV; Waddell N; Grimmond SM Biotechniques; 2014 Jul; 57(1):31-8. PubMed ID: 25005691 [TBL] [Abstract][Full Text] [Related]
14. An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985. Report of the Standing Committee on Human Cytogenetic Nomenclature. Birth Defects Orig Artic Ser; 1985; 21(1):1-117. PubMed ID: 4041569 [No Abstract] [Full Text] [Related]
15. An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature. Cytogenet Cell Genet; 1978; 21(6):309-409. PubMed ID: 747930 [No Abstract] [Full Text] [Related]
16. Defining the limits of detection for chromosome rearrangements in the preimplantation embryo using next generation sequencing. Cuman C; Beyer CE; Brodie D; Fullston T; Lin JI; Willats E; Zander-Fox D; Mullen J Hum Reprod; 2018 Aug; 33(8):1566-1576. PubMed ID: 30007310 [TBL] [Abstract][Full Text] [Related]
17. Management of cytogenetic data in multi-center leukemia trials. Shuster JJ; Carroll AJ; Look TA; Pui CH; Land VJ; Jackson J; Pullen DJ; Steuber CP; Crist WM Comput Methods Programs Biomed; 1993 Aug; 40(4):269-77. PubMed ID: 8261774 [TBL] [Abstract][Full Text] [Related]
18. The history of human cytogenetics in India-A review. Dutta UR Gene; 2016 Sep; 589(2):112-7. PubMed ID: 26850130 [TBL] [Abstract][Full Text] [Related]
19. Cellular and genomic approaches for exploring structural chromosomal rearrangements. Hu Q; Maurais EG; Ly P Chromosome Res; 2020 Mar; 28(1):19-30. PubMed ID: 31933061 [TBL] [Abstract][Full Text] [Related]
20. Guiding the global evolution of cytogenetic testing for hematologic malignancies. Akkari YMN; Baughn LB; Dubuc AM; Smith AC; Mallo M; Dal Cin P; Diez Campelo M; Gallego MS; Granada Font I; Haase DT; Schlegelberger B; Slavutsky I; Mecucci C; Levine RL; Hasserjian RP; Solé F; Levy B; Xu X Blood; 2022 Apr; 139(15):2273-2284. PubMed ID: 35167654 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]