368 related articles for article (PubMed ID: 27898983)
1. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L; Ratnapriya R; du Plessis M; Chaitankar V; Ramesar RS; Swaroop A
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6374-6381. PubMed ID: 27898983
[TBL] [Abstract][Full Text] [Related]
2. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P; Villanueva AL; Soto-Hermida A; Duncan JL; Matsui H; Borooah S; Kurmanov B; Richard G; Khan SY; Branham K; Huang B; Suk J; Bakall B; Goldberg JL; Gabriel L; Khan NW; Raghavendra PB; Zhou J; Devalaraja S; Huynh A; Alapati A; Zawaydeh Q; Weleber RG; Heckenlively JR; Hejtmancik JF; Riazuddin S; Sieving PA; Riazuddin SA; Frazer KA; Ayyagari R
PLoS Genet; 2021 Oct; 17(10):e1009848. PubMed ID: 34662339
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A; Shevah E; Kimchi A; Mizrahi-Meissonnier L; Khateb S; Ratnapriya R; Lazar CH; Blumenfeld A; Ben-Yosef T; Hemo Y; Pe'er J; Averbuch E; Sagi M; Boleda A; Gieser L; Zlotogorski A; Falik-Zaccai T; Alimi-Kasem O; Jacobson SG; Chowers I; Swaroop A; Banin E; Sharon D
Sci Rep; 2015 Aug; 5():13187. PubMed ID: 26306921
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P; Duncan JL; Maranhao B; Kozak I; Branham K; Gabriel L; Lin JH; Barteselli G; Navani M; Suk J; Parke M; Schlechter C; Weleber RG; Heckenlively JR; Dagnelie G; Lee P; Riazuddin SA; Ayyagari R
Physiol Genomics; 2017 Apr; 49(4):216-229. PubMed ID: 28130426
[TBL] [Abstract][Full Text] [Related]
6. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.
Azab B; Barham R; Ali D; Dardas Z; Rashdan L; Bijawi M; Maswadi R; Awidi A; Jafar H; Abu-Ameerh M; Al-Bdour M; Amr S; Awidi A
Can J Ophthalmol; 2019 Feb; 54(1):51-59. PubMed ID: 30851774
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N; Arno G; Jurkute N; Schiff E; Ba-Abbad R; Malka S; Gimenez A; Georgiou M; Wright G; Armengol M; Knight H; Katz M; Moosajee M; Yu-Wai-Man P; Moore AT; Michaelides M; Webster AR; Mahroo OA
Ophthalmology; 2020 Oct; 127(10):1384-1394. PubMed ID: 32423767
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
[TBL] [Abstract][Full Text] [Related]
13. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
[TBL] [Abstract][Full Text] [Related]
14. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
Jinda W; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Suriyaphol P; Trinavarat A; Atchaneeyasakul LO
Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2259-68. PubMed ID: 24618324
[TBL] [Abstract][Full Text] [Related]
17. Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.
Khateb S; Hanany M; Khalaileh A; Beryozkin A; Meyer S; Abu-Diab A; Abu Turky F; Mizrahi-Meissonnier L; Lieberman S; Ben-Yosef T; Banin E; Sharon D
J Med Genet; 2016 Sep; 53(9):600-7. PubMed ID: 27208209
[TBL] [Abstract][Full Text] [Related]
18. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H
Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Shen C; You B; Chen YN; Li Y; Li W; Wei WB
Mol Vis; 2022; 28():96-113. PubMed ID: 35814500
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yang J; Guo X; Yin Y; Wang J; Zhang Q
Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
