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Cited by in F6Publishing
For: Wang L, Zhang J, Chen N, Wang L, Zhang F, Ma Z, Li G, Yang L. Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. Genes (Basel) 2018;9:E360. [PMID: 30029497 DOI: 10.3390/genes9070360] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 5.8] [Reference Citation Analysis]
Number Citing Articles
1 Bellingrath JS, McClements ME, Shanks M, Clouston P, Fischer MD, MacLaren RE. Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant. Ophthalmic Genet 2022;:1-10. [PMID: 35538629 DOI: 10.1080/13816810.2022.2073599] [Reference Citation Analysis]
2 Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q. Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants. Exp Eye Res 2021;203:108405. [PMID: 33347869 DOI: 10.1016/j.exer.2020.108405] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
3 Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes (Basel) 2021;12:1269. [PMID: 34440443 DOI: 10.3390/genes12081269] [Reference Citation Analysis]
4 Butz H, Nyírő G, Kurucz PA, Likó I, Patócs A. Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. Hum Genet 2021;140:113-34. [PMID: 32222824 DOI: 10.1007/s00439-020-02148-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 4.5] [Reference Citation Analysis]
5 Dan H, Li T, Lei X, Huang X, Xing Y, Shen Y. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia. Biosci Rep 2020;40:BSR20200067. [PMID: 32364220 DOI: 10.1042/BSR20200067] [Reference Citation Analysis]
6 Zanolli M, Oporto JI, Verdaguer JI, López JP, Zacharías S, Romero P, Ossandón D, Denk O, Acuña O, López JM, Stevenson R, Álamos B, Iturriaga H. Genetic testing for inherited ocular conditions in a developing country. Ophthalmic Genetics 2020;41:36-40. [DOI: 10.1080/13816810.2020.1734944] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
7 Lee IH, Lin Y, Alvarez WJ, Hernandez-Ferrer C, Mandl KD, Kong SW. WEScover: selection between clinical whole exome sequencing and gene panel testing. BMC Bioinformatics 2021;22:259. [PMID: 34016036 DOI: 10.1186/s12859-021-04178-5] [Reference Citation Analysis]
8 Burdon KP. The utility of genomic testing in the ophthalmology clinic: A review. Clin Exp Ophthalmol 2021;49:615-25. [PMID: 34231298 DOI: 10.1111/ceo.13970] [Reference Citation Analysis]
9 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. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology 2020;127:1384-94. [PMID: 32423767 DOI: 10.1016/j.ophtha.2020.04.008] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 17.5] [Reference Citation Analysis]
10 Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC Med Genomics 2021;14:74. [PMID: 33691693 DOI: 10.1186/s12920-021-00874-6] [Reference Citation Analysis]
11 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. A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. Int J Mol Sci 2020;21:E9355. [PMID: 33302505 DOI: 10.3390/ijms21249355] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
12 Zhou C, Xiao Y, Xie H, Liu S, Wang J. A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report. BMC Med Genomics 2021;14:200. [PMID: 34376197 DOI: 10.1186/s12920-021-01052-4] [Reference Citation Analysis]
13 Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities. Prog Retin Eye Res 2021;:101029. [PMID: 34839010 DOI: 10.1016/j.preteyeres.2021.101029] [Reference Citation Analysis]
14 Rafati M, Mohamadhashem F, Jalilian K, Hoseininasab F, Fakhri L, Hoseini A, Amiri H, Barati Z, Darzi Ramandi S, Mostofinezhad N, Mahmoudi AH, Ghaffari SR. Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis. Ophthalmic Genet 2021;:1-6. [PMID: 34791963 DOI: 10.1080/13816810.2021.2002915] [Reference Citation Analysis]
15 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. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies. Genes (Basel) 2021;12:593. [PMID: 33921607 DOI: 10.3390/genes12040593] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Abu-Ameerh M, Mohammad H, Dardas Z, Barham R, Ali D, Bijawi M, Tawalbeh M, Amr S, Hatmal MM, Al-Bdour M, Awidi A, Azab B. Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. Mol Genet Genomic Med 2020;8:e1123. [PMID: 31968401 DOI: 10.1002/mgg3.1123] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
17 Liu X, Jia R, Meng X, Li Y, Yang L. Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter. Exp Eye Res 2021;215:108893. [PMID: 34919893 DOI: 10.1016/j.exer.2021.108893] [Reference Citation Analysis]
18 Liu X, Tao T, Zhao L, Li G, Yang L. Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies. Clin Exp Ophthalmol 2021;49:46-59. [PMID: 33090715 DOI: 10.1111/ceo.13875] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
19 Rodríguez-Muñoz A, Aller E, Jaijo T, González-García E, Cabrera-Peset A, Gallego-Pinazo R, Udaondo P, Salom D, García-García G, Millán JM. Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. J Mol Diagn 2020;22:532-43. [PMID: 32036094 DOI: 10.1016/j.jmoldx.2020.01.003] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 4.5] [Reference Citation Analysis]
20 Dai H, Zhang Y, Li R, Li Y, Li G. Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy. Curr Eye Res 2021;:1-7. [PMID: 34724870 DOI: 10.1080/02713683.2021.1995004] [Reference Citation Analysis]
21 García Bohórquez B, Aller E, Rodríguez Muñoz A, Jaijo T, García García G, Millán JM. Updating the Genetic Landscape of Inherited Retinal Dystrophies. Front Cell Dev Biol 2021;9:645600. [PMID: 34327195 DOI: 10.3389/fcell.2021.645600] [Reference Citation Analysis]
22 Sarkadi B, Liko I, Nyiro G, Igaz P, Butz H, Patocs A. Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. Cancers (Basel) 2021;13:4219. [PMID: 34439371 DOI: 10.3390/cancers13164219] [Reference Citation Analysis]
23 Dockery A, Whelan L, Humphries P, Farrar GJ. Next-Generation Sequencing Applications for Inherited Retinal Diseases. Int J Mol Sci 2021;22:5684. [PMID: 34073611 DOI: 10.3390/ijms22115684] [Reference Citation Analysis]
24 Downes SM, Nguyen T, Tai V, Broadgate S, Shah M, Al-Khuzaei S, MacLaren RE, Shanks M, Clouston P, Halford S. Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. Genes (Basel) 2020;11:E1497. [PMID: 33322828 DOI: 10.3390/genes11121497] [Reference Citation Analysis]