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 *

148 related articles for article (PubMed ID: 38594146)

  • 1. Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies.
    Leitão E; Schröder C; Depienne C
    Rev Neurol (Paris); 2024 May; 180(5):383-392. PubMed ID: 38594146
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
    Ebbert MTW; Farrugia SL; Sens JP; Jansen-West K; Gendron TF; Prudencio M; McLaughlin IJ; Bowman B; Seetin M; DeJesus-Hernandez M; Jackson J; Brown PH; Dickson DW; van Blitterswijk M; Rademakers R; Petrucelli L; Fryer JD
    Mol Neurodegener; 2018 Aug; 13(1):46. PubMed ID: 30126445
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
    Chintalaphani SR; Pineda SS; Deveson IW; Kumar KR
    Acta Neuropathol Commun; 2021 May; 9(1):98. PubMed ID: 34034831
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
    Ibañez K; Polke J; Hagelstrom RT; Dolzhenko E; Pasko D; Thomas ERA; Daugherty LC; Kasperaviciute D; Smith KR; ; Deans ZC; Hill S; Fowler T; Scott RH; Hardy J; Chinnery PF; Houlden H; Rendon A; Caulfield MJ; Eberle MA; Taft RJ; Tucci A;
    Lancet Neurol; 2022 Mar; 21(3):234-245. PubMed ID: 35182509
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
    Mizuguchi T; Toyota T; Miyatake S; Mitsuhashi S; Doi H; Kudo Y; Kishida H; Hayashi N; Tsuburaya RS; Kinoshita M; Fukuyama T; Fukuda H; Koshimizu E; Tsuchida N; Uchiyama Y; Fujita A; Takata A; Miyake N; Kato M; Tanaka F; Adachi H; Matsumoto N
    Brain; 2021 May; 144(4):1103-1117. PubMed ID: 33791773
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Challenges facing repeat expansion identification, characterisation, and the pathway to discovery.
    Read JL; Davies KC; Thompson GC; Delatycki MB; Lockhart PJ
    Emerg Top Life Sci; 2023 Dec; 7(3):339-348. PubMed ID: 37888797
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
    Rajan-Babu IS; Peng JJ; Chiu R; ; ; Li C; Mohajeri A; Dolzhenko E; Eberle MA; Birol I; Friedman JM
    Genome Med; 2021 Aug; 13(1):126. PubMed ID: 34372915
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
    Vegezzi E; Ishiura H; Bragg DC; Pellerin D; Magrinelli F; Currò R; Facchini S; Tucci A; Hardy J; Sharma N; Danzi MC; Zuchner S; Brais B; Reilly MM; Tsuji S; Houlden H; Cortese A
    Lancet Neurol; 2024 Jul; 23(7):725-739. PubMed ID: 38876750
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
    Bahlo M; Bennett MF; Degorski P; Tankard RM; Delatycki MB; Lockhart PJ
    F1000Res; 2018; 7():. PubMed ID: 29946432
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.
    Faust H; Duffek P; Hentschel J; Popp D
    J Clin Lab Anal; 2024 Mar; 38(6):e25029. PubMed ID: 38506401
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
    Erdmann H; Schöberl F; Giurgiu M; Leal Silva RM; Scholz V; Scharf F; Wendlandt M; Kleinle S; Deschauer M; Nübling G; Heide W; Babacan SS; Schneider C; Neuhann T; Hahn K; Schoser B; Holinski-Feder E; Wolf DA; Abicht A
    Brain; 2023 May; 146(5):1831-1843. PubMed ID: 36227727
    [TBL] [Abstract][Full Text] [Related]  

  • 12. GC-rich repeat expansions: associated disorders and mechanisms.
    Schröder C; Horsthemke B; Depienne C
    Med Genet; 2021 Dec; 33(4):325-335. PubMed ID: 38835438
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
    Fukuda H; Yamaguchi D; Nyquist K; Yabuki Y; Miyatake S; Uchiyama Y; Hamanaka K; Saida K; Koshimizu E; Tsuchida N; Fujita A; Mitsuhashi S; Ohbo K; Satake Y; Sone J; Doi H; Morihara K; Okamoto T; Takahashi Y; Wenger AM; Shioda N; Tanaka F; Matsumoto N; Mizuguchi T
    Clin Epigenetics; 2021 Nov; 13(1):204. PubMed ID: 34774111
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of long repeat expansions from PCR-free whole-genome sequence data.
    Dolzhenko E; van Vugt JJFA; Shaw RJ; Bekritsky MA; van Blitterswijk M; Narzisi G; Ajay SS; Rajan V; Lajoie BR; Johnson NH; Kingsbury Z; Humphray SJ; Schellevis RD; Brands WJ; Baker M; Rademakers R; Kooyman M; Tazelaar GHP; van Es MA; McLaughlin R; Sproviero W; Shatunov A; Jones A; Al Khleifat A; Pittman A; Morgan S; Hardiman O; Al-Chalabi A; Shaw C; Smith B; Neo EJ; Morrison K; Shaw PJ; Reeves C; Winterkorn L; Wexler NS; ; Housman DE; Ng CW; Li AL; Taft RJ; van den Berg LH; Bentley DR; Veldink JH; Eberle MA
    Genome Res; 2017 Nov; 27(11):1895-1903. PubMed ID: 28887402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data.
    Chiara M; Zambelli F; Picardi E; Horner DS; Pesole G
    Brief Bioinform; 2020 Dec; 21(6):1971-1986. PubMed ID: 31792498
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Optical Genome Mapping for Applications in Repeat Expansion Disorders.
    van der Sanden B; Neveling K; Pang AWC; Shukor S; Gallagher MD; Burke SL; Kamsteeg EJ; Hastie A; Hoischen A
    Curr Protoc; 2024 Jul; 4(7):e1094. PubMed ID: 38966883
    [TBL] [Abstract][Full Text] [Related]  

  • 17. STRetch: detecting and discovering pathogenic short tandem repeat expansions.
    Dashnow H; Lek M; Phipson B; Halman A; Sadedin S; Lonsdale A; Davis M; Lamont P; Clayton JS; Laing NG; MacArthur DG; Oshlack A
    Genome Biol; 2018 Aug; 19(1):121. PubMed ID: 30129428
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
    Rafehi H; Bennett MF; Bahlo M
    Emerg Top Life Sci; 2023 Dec; 7(3):349-359. PubMed ID: 37733280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
    Kaplun L; Krautz-Peterson G; Neerman N; Stanley C; Hussey S; Folwick M; McGarry A; Weiss S; Kaplun A
    Front Genet; 2023; 14():1145285. PubMed ID: 37152986
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
    Dolzhenko E; Bennett MF; Richmond PA; Trost B; Chen S; van Vugt JJFA; Nguyen C; Narzisi G; Gainullin VG; Gross AM; Lajoie BR; Taft RJ; Wasserman WW; Scherer SW; Veldink JH; Bentley DR; Yuen RKC; Bahlo M; Eberle MA
    Genome Biol; 2020 Apr; 21(1):102. PubMed ID: 32345345
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.