395 related articles for article (PubMed ID: 38467784)
1. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Rajan-Babu IS; Dolzhenko E; Eberle MA; Friedman JM
Nat Rev Genet; 2024 Jul; 25(7):476-499. PubMed ID: 38467784
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Genome-wide detection of tandem DNA repeats that are expanded in autism.
Trost B; Engchuan W; Nguyen CM; Thiruvahindrapuram B; Dolzhenko E; Backstrom I; Mirceta M; Mojarad BA; Yin Y; Dov A; Chandrakumar I; Prasolava T; Shum N; Hamdan O; Pellecchia G; Howe JL; Whitney J; Klee EW; Baheti S; Amaral DG; Anagnostou E; Elsabbagh M; Fernandez BA; Hoang N; Lewis MES; Liu X; Sjaarda C; Smith IM; Szatmari P; Zwaigenbaum L; Glazer D; Hartley D; Stewart AK; Eberle MA; Sato N; Pearson CE; Scherer SW; Yuen RKC
Nature; 2020 Oct; 586(7827):80-86. PubMed ID: 32717741
[TBL] [Abstract][Full Text] [Related]
5. On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.
Khristich AN; Mirkin SM
J Biol Chem; 2020 Mar; 295(13):4134-4170. PubMed ID: 32060097
[TBL] [Abstract][Full Text] [Related]
6. Short tandem repeats of human genome are intrinsically unstable in cultured cells in vivo.
Liu Y; Li J; Wu Q
Gene; 2023 Aug; 877():147539. PubMed ID: 37279866
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genome-wide detection of short tandem repeat expansions by long-read sequencing.
Liu Q; Tong Y; Wang K
BMC Bioinformatics; 2020 Dec; 21(Suppl 21):542. PubMed ID: 33371889
[TBL] [Abstract][Full Text] [Related]
9. STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.
Dashnow H; Pedersen BS; Hiatt L; Brown J; Beecroft SJ; Ravenscroft G; LaCroix AJ; Lamont P; Roxburgh RH; Rodrigues MJ; Davis M; Mefford HC; Laing NG; Quinlan AR
Genome Biol; 2022 Dec; 23(1):257. PubMed ID: 36517892
[TBL] [Abstract][Full Text] [Related]
10. Systematic microsatellite repeat expansion cloning and validation.
Rohilla KJ; Ovington KN; Pater AA; Barton M; Henke AJ; Gagnon KT
Hum Genet; 2020 Oct; 139(10):1233-1246. PubMed ID: 32277284
[TBL] [Abstract][Full Text] [Related]
11. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
Matsuura T; Fang P; Pearson CE; Jayakar P; Ashizawa T; Roa BB; Nelson DL
Am J Hum Genet; 2006 Jan; 78(1):125-9. PubMed ID: 16385455
[TBL] [Abstract][Full Text] [Related]
12. SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
McFarland KN; Liu J; Landrian I; Godiska R; Shanker S; Yu F; Farmerie WG; Ashizawa T
PLoS One; 2015; 10(8):e0135906. PubMed ID: 26295943
[TBL] [Abstract][Full Text] [Related]
13. Selection pressure on human STR loci and its relevance in repeat expansion disease.
Shimada MK; Sanbonmatsu R; Yamaguchi-Kabata Y; Yamasaki C; Suzuki Y; Chakraborty R; Gojobori T; Imanishi T
Mol Genet Genomics; 2016 Oct; 291(5):1851-69. PubMed ID: 27290643
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Short tandem repeats in human exons: a target for disease mutations.
Madsen BE; Villesen P; Wiuf C
BMC Genomics; 2008 Sep; 9():410. PubMed ID: 18789129
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Native functions of short tandem repeats.
Wright SE; Todd PK
Elife; 2023 Mar; 12():. PubMed ID: 36940239
[TBL] [Abstract][Full Text] [Related]
18. A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples.
Oketch JW; Wain LV; Hollox EJ
PLoS One; 2024; 19(4):e0300545. PubMed ID: 38558075
[TBL] [Abstract][Full Text] [Related]
19. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Lu J; Toro C; Adams DR; ; Moreno CAM; Lee WP; Leung YY; Harms MB; Vardarajan B; Heinzen EL
BMC Genomics; 2024 Jan; 25(1):115. PubMed ID: 38279154
[TBL] [Abstract][Full Text] [Related]
20. Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Tang H; Kirkness EF; Lippert C; Biggs WH; Fabani M; Guzman E; Ramakrishnan S; Lavrenko V; Kakaradov B; Hou C; Hicks B; Heckerman D; Och FJ; Caskey CT; Venter JC; Telenti A
Am J Hum Genet; 2017 Nov; 101(5):700-715. PubMed ID: 29100084
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]