155 related articles for article (PubMed ID: 31273287)
1. Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.
Watson CM; Crinnion LA; Hewitt S; Bates J; Robinson R; Carr IM; Sheridan E; Adlard J; Bonthron DT
Lab Invest; 2020 Jan; 100(1):135-146. PubMed ID: 31273287
[TBL] [Abstract][Full Text] [Related]
2. Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
Watson CM; Holliday DL; Crinnion LA; Bonthron DT
Prenat Diagn; 2022 Feb; 42(2):226-232. PubMed ID: 35014072
[TBL] [Abstract][Full Text] [Related]
3. Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.
McClinton B; Crinnion LA; McKibbin M; Mukherjee R; Poulter JA; Smith CEL; Ali M; Watson CM; Inglehearn CF; Toomes C
Mol Genet Genomic Med; 2023 Jun; 11(6):e2164. PubMed ID: 36934458
[TBL] [Abstract][Full Text] [Related]
4. Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.
Wang Y; Yang Y; Liu J; Chen XC; Liu X; Wang CZ; He XY
Mol Genet Genomics; 2014 Oct; 289(5):1013-21. PubMed ID: 24770780
[TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
del Gaudio D; Yang Y; Boggs BA; Schmitt ES; Lee JA; Sahoo T; Pham HT; Wiszniewska J; Chinault AC; Beaudet AL; Eng CM
Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
[TBL] [Abstract][Full Text] [Related]
6. Microarray-based mutation detection in the dystrophin gene.
Hegde MR; Chin EL; Mulle JG; Okou DT; Warren ST; Zwick ME
Hum Mutat; 2008 Sep; 29(9):1091-9. PubMed ID: 18663755
[TBL] [Abstract][Full Text] [Related]
7. Linked-Read Whole Genome Sequencing Solves a Double
Onore ME; Torella A; Musacchia F; D'Ambrosio P; Zanobio M; Del Vecchio Blanco F; Piluso G; Nigro V
Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33494189
[TBL] [Abstract][Full Text] [Related]
8. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
Lim BC; Lee S; Shin JY; Kim JI; Hwang H; Kim KJ; Hwang YS; Seo JS; Chae JH
J Med Genet; 2011 Nov; 48(11):731-6. PubMed ID: 21969337
[TBL] [Abstract][Full Text] [Related]
9. An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
Chin HL; O'Neill K; Louie K; Brown L; Schlade-Bartusiak K; Eydoux P; Rupps R; Farahani A; Boerkoel CF; Jones SJM
Am J Med Genet A; 2021 Aug; 185(8):2541-2545. PubMed ID: 34018669
[TBL] [Abstract][Full Text] [Related]
10. Targeted sequencing of the
Aravind S; Ashley B; Mannan A; Ganapathy A; Ramesh K; Ramachandran A; Nongthomba U; Shastry A
Indian J Med Res; 2019 Sep; 150(3):282-289. PubMed ID: 31719299
[TBL] [Abstract][Full Text] [Related]
11. Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.
Norling A; Hirschberg AL; Rodriguez-Wallberg KA; Iwarsson E; Wedell A; Barbaro M
Hum Reprod; 2014 Aug; 29(8):1818-27. PubMed ID: 24939957
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Du C; Mark D; Wappenschmidt B; Böckmann B; Pabst B; Chan S; Cao H; Morlot S; Scholz C; Auber B; Rhiem K; Schmutzler R; Illig T; Schlegelberger B; Steinemann D
Breast Cancer Res Treat; 2018 Dec; 172(3):561-569. PubMed ID: 30191368
[TBL] [Abstract][Full Text] [Related]
14. Reclassification of
He W; Meng G; Hu X; Dai J; Liu J; Li X; Hu H; Tan Y; Zhang Q; Lu G; Lin G; Du J
Genes (Basel); 2022 Oct; 13(11):. PubMed ID: 36360209
[TBL] [Abstract][Full Text] [Related]
15. CRISPR/Cas9-based genome editing for the modification of multiple duplications that cause Duchenne muscular dystrophy.
Wang DN; Wang ZQ; Jin M; Lin MT; Wang N
Gene Ther; 2022 Dec; 29(12):730-737. PubMed ID: 35534612
[TBL] [Abstract][Full Text] [Related]
16. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
Bovolenta M; Neri M; Fini S; Fabris M; Trabanelli C; Venturoli A; Martoni E; Bassi E; Spitali P; Brioschi S; Falzarano MS; Rimessi P; Ciccone R; Ashton E; McCauley J; Yau S; Abbs S; Muntoni F; Merlini L; Gualandi F; Ferlini A
BMC Genomics; 2008 Nov; 9():572. PubMed ID: 19040728
[TBL] [Abstract][Full Text] [Related]
17. Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in
Skowronek D; Pilz RA; Bonde L; Schamuhn OJ; Feldmann JL; Hoffjan S; Much CD; Felbor U; Rath M
Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555281
[TBL] [Abstract][Full Text] [Related]
18. Targeted nanopore sequencing with Cas9-guided adapter ligation.
Gilpatrick T; Lee I; Graham JE; Raimondeau E; Bowen R; Heron A; Downs B; Sukumar S; Sedlazeck FJ; Timp W
Nat Biotechnol; 2020 Apr; 38(4):433-438. PubMed ID: 32042167
[TBL] [Abstract][Full Text] [Related]
19. MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study.
Ansar Z; Nasir A; Moatter T; Khan S; Kirmani S; Ibrahim S; Imam K; Ather A; Samreen A; Hasan Z
Genet Test Mol Biomarkers; 2019 Jul; 23(7):468-472. PubMed ID: 31157985
[No Abstract] [Full Text] [Related]
20. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A; Stephens J; French CE; Gleadall N; Mégy K; Penkett C; Shamardina O; Stirrups K; Delon I; Dewhurst E; Dolling H; Erwood M; Grozeva D; Stefanucci L; Arno G; Webster AR; Cole T; Austin T; Branco RG; Ouwehand WH; Raymond FL; Carss KJ
Genome Med; 2018 Dec; 10(1):95. PubMed ID: 30526634
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]