417 related articles for article (PubMed ID: 33090715)
1. 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]
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. Screening copy number variations in 35 unsolved inherited retinal disease families.
Liu X; Dai H; Li G; Jia R; Meng X; Yu S; Yang L; Hong J
Hum Genet; 2024 Feb; 143(2):197-210. PubMed ID: 38282009
[TBL] [Abstract][Full Text] [Related]
4. Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L; Zhang J; Chen N; Wang L; Zhang F; Ma Z; Li G; Yang L
Genes (Basel); 2018 Jul; 9(7):. PubMed ID: 30029497
[TBL] [Abstract][Full Text] [Related]
5. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R; de Bruijn SE; Zahid M; Rodenburg K; Hitti-Malin RJ; Rodríguez-Hidalgo M; Boonen EGM; Jarral A; Mahmood A; Corominas J; Khalil S; Zai JA; Ali G; Ruiz-Ederra J; Gilissen C; Cremers FPM; Ansar M; Panneman DM; Roosing S
Exp Eye Res; 2024 Jul; 244():109945. PubMed ID: 38815792
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Kamenarova K; Mihova K; Veleva N; Mermeklieva E; Mihaylova B; Dimitrova G; Oscar A; Shandurkov I; Cherninkova S; Kaneva R
Mol Genet Genomic Med; 2022 Aug; 10(8):e1997. PubMed ID: 35656873
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T; Shen Y; Sun Z; Han X; Wei X; Li W; Lu C; Cheng T; Zou X; Li H; Cao Z; Gao H; Ma X; Luo M; Sui R
Am J Ophthalmol; 2023 Apr; 248():96-106. PubMed ID: 36493848
[TBL] [Abstract][Full Text] [Related]
11. Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N; Mayer AK; Strom TM; Kohl S; Glöckle N; Schubach M; Andreasson S; Bernd A; Birch DG; Hamel CP; Heckenlively JR; Jacobson SG; Kamme C; Kellner U; Kunstmann E; Maffei P; Reiff CM; Rohrschneider K; Rosenberg T; Rudolph G; Vámos R; Varsányi B; Weleber RG; Wissinger B
PLoS One; 2016; 11(1):e0145951. PubMed ID: 26766544
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
[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. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
Tehreem R; Chen I; Shah MR; Li Y; Khan MA; Afshan K; Chen R; Firasat S
Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140798
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T; Neuhaus C; Khan AO; Decker C; Preising MN; Friedburg C; Bieg A; Gliem M; Charbel Issa P; Holz FG; Baig SM; Hellenbroich Y; Galvez A; Platzer K; Wollnik B; Laddach N; Ghaffari SR; Rafati M; Botzenhart E; Tinschert S; Börger D; Bohring A; Schreml J; Körtge-Jung S; Schell-Apacik C; Bakur K; Al-Aama JY; Neuhann T; Herkenrath P; Nürnberg G; Nürnberg P; Davis JS; Gal A; Bergmann C; Lorenz B; Bolz HJ
PLoS One; 2013; 8(11):e78496. PubMed ID: 24265693
[TBL] [Abstract][Full Text] [Related]
19. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B; Li J; Fernandez-San Jose P; Liu Y; March M; Pellegrino R; Golhar R; Corton M; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Guo Y; Tian L; Liu X; Guan L; Zhang J; Keating B; Xu X; Hakonarson H; Ayuso C
PLoS One; 2015; 10(7):e0133624. PubMed ID: 26197217
[TBL] [Abstract][Full Text] [Related]
20. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]