240 related articles for article (PubMed ID: 33302505)
1. A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M; Bravo-Gil N; González-Del Pozo M; Méndez-Vidal C; Fernández-Suárez E; Rodríguez-de la Rúa E; Borrego S; Antiñolo G
Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33302505
[TBL] [Abstract][Full Text] [Related]
2. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
Liu XZ; Li YY; Yang LP
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M; Navarro R; Ruiz-Nogales S; Méndez P; Burés-Jelstrup A; Corcóstegui B; Pomares E
Sci Rep; 2017 Feb; 7():42078. PubMed ID: 28181551
[TBL] [Abstract][Full Text] [Related]
4. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
de Castro-Miró M; Tonda R; Escudero-Ferruz P; Andrés R; Mayor-Lorenzo A; Castro J; Ciccioli M; Hidalgo DA; Rodríguez-Ezcurra JJ; Farrando J; Pérez-Santonja JJ; Cormand B; Marfany G; Gonzàlez-Duarte R
PLoS One; 2016; 11(12):e0168966. PubMed ID: 28005958
[TBL] [Abstract][Full Text] [Related]
5. Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Nash BM; Ma A; Ho G; Farnsworth E; Minoche AE; Cowley MJ; Barnett C; Smith JM; Loi TH; Wong K; St Heaps L; Wright D; Dinger ME; Bennetts B; Grigg JR; Jamieson RV
Int J Mol Sci; 2022 Mar; 23(7):. PubMed ID: 35409265
[TBL] [Abstract][Full Text] [Related]
6. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab A; AlTalbishi A; Rosin B; Kanaan M; Kamal L; Swaroop A; Chowers I; Banin E; Sharon D; Khateb S
Acta Ophthalmol; 2019 Sep; 97(6):e877-e886. PubMed ID: 30925032
[TBL] [Abstract][Full Text] [Related]
7. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.
Gonzàlez-Duarte R; de Castro-Miró M; Tuson M; Ramírez-Castañeda V; Gils RV; Marfany G
Adv Exp Med Biol; 2019; 1185():215-219. PubMed ID: 31884614
[TBL] [Abstract][Full Text] [Related]
8. A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.
Barandika O; Irigoyen C; Anasagasti A; Egiguren G; Ezquerra-Inchausti M; López de Munain A; Ruiz-Ederra J
Ophthalmic Res; 2016; 56(3):123-31. PubMed ID: 27160245
[TBL] [Abstract][Full Text] [Related]
9. Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.
Liu X; Tao T; Zhao L; Li G; Yang L
Clin Exp Ophthalmol; 2021 Jan; 49(1):46-59. PubMed ID: 33090715
[TBL] [Abstract][Full Text] [Related]
10. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Ellingford JM; Horn B; Campbell C; Arno G; Barton S; Tate C; Bhaskar S; Sergouniotis PI; Taylor RL; Carss KJ; Raymond LFL; Michaelides M; Ramsden SC; Webster AR; Black GCM
J Med Genet; 2018 Feb; 55(2):114-121. PubMed ID: 29074561
[TBL] [Abstract][Full Text] [Related]
11. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B; Dardas Z; Aburizeg D; Al-Bdour M; Abu-Ameerh M; Saleh T; Barham R; Maswadi R; Ababneh NA; Alsalem M; Zouk H; Amr S; Awidi A
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921607
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Salmaninejad A; Bedoni N; Ravesh Z; Quinodoz M; Shoeibi N; Mojarrad M; Pasdar A; Rivolta C
Sci Rep; 2020 Nov; 10(1):19413. PubMed ID: 33173045
[TBL] [Abstract][Full Text] [Related]
13. Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Toulis V; Cortés-González V; Castro-Miró M; Sallum JF; Català-Mora J; Villanueva-Mendoza C; Ciccioli M; Gonzàlez-Duarte R; Valero R; Marfany G
Genes (Basel); 2020 Mar; 11(4):. PubMed ID: 32244552
[TBL] [Abstract][Full Text] [Related]
14. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Song F; Owczarek-Lipska M; Ahmels T; Book M; Aisenbrey S; Menghini M; Barthelmes D; Schrader S; Spital G; Neidhardt J
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440443
[TBL] [Abstract][Full Text] [Related]
15. Identifying an appropriate gene testing tool for inherited retinal dystrophy in Indonesia, a developing country.
Perdamaian ABI; Drupadi RN; Aribowo E; Paramita DK; Sasongko MB; Supanji S
Med J Malaysia; 2024 May; 79(3):342-347. PubMed ID: 38817069
[TBL] [Abstract][Full Text] [Related]
16. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF; Huang F; Wu KC; Wu J; Chen J; Pang CP; Lu F; Qu J; Jin ZB
Genet Med; 2015 Apr; 17(4):271-8. PubMed ID: 25356976
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C
JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614
[TBL] [Abstract][Full Text] [Related]
19. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
Ordoñez-Labastida V; Montes-Almanza L; García-Martínez F; Zenteno JC
Rev Invest Clin; 2022; 74(4):219-226. PubMed ID: 36087940
[TBL] [Abstract][Full Text] [Related]
20. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.
Tiwari A; Lemke J; Altmueller J; Thiele H; Glaus E; Fleischhauer J; Nürnberg P; Neidhardt J; Berger W
PLoS One; 2016; 11(7):e0158692. PubMed ID: 27391102
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]