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For: Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012;7:8. [PMID: 22277662 DOI: 10.1186/1750-1172-7-8] [Cited by in Crossref: 115] [Cited by in F6Publishing: 106] [Article Influence: 11.5] [Reference Citation Analysis]
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9 Yohe S, Sivasankar M, Ghosh A, Ghosh A, Holle J, Murugan S, Gupta R, Schimmenti LA, Vedam R, Thyagarajan B. Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India. Mol Genet Genomic Med 2020;8:e1081. [PMID: 31816670 DOI: 10.1002/mgg3.1081] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
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11 Buganim Y, Markoulaki S, van Wietmarschen N, Hoke H, Wu T, Ganz K, Akhtar-Zaidi B, He Y, Abraham BJ, Porubsky D. The developmental potential of iPSCs is greatly influenced by reprogramming factor selection. Cell Stem Cell. 2014;15:295-309. [PMID: 25192464 DOI: 10.1016/j.stem.2014.07.003] [Cited by in Crossref: 103] [Cited by in F6Publishing: 93] [Article Influence: 14.7] [Reference Citation Analysis]
12 Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014;23:491-501. [PMID: 24026677 DOI: 10.1093/hmg/ddt439] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 2.1] [Reference Citation Analysis]
13 Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG. Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives. Prog Retin Eye Res 2020;77:100827. [PMID: 31899291 DOI: 10.1016/j.preteyeres.2019.100827] [Cited by in Crossref: 47] [Cited by in F6Publishing: 41] [Article Influence: 15.7] [Reference Citation Analysis]
14 Eandi CM, Grignolo FM, Passerini I, Marchese C. Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease. Eur J Ophthalmol 2014;24:814-7. [PMID: 24585425 DOI: 10.5301/ejo.5000458] [Reference Citation Analysis]
15 Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr 2015;4:139-63. [PMID: 26835369 DOI: 10.3978/j.issn.2224-4336.2015.04.03] [Cited by in F6Publishing: 25] [Reference Citation Analysis]
16 Terray A, Slembrouck A, Nanteau C, Chondroyer C, Zeitz C, Sahel JA, Audo I, Reichman S, Goureau O. Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene. Stem Cell Res 2017;24:1-4. [PMID: 29034877 DOI: 10.1016/j.scr.2017.08.003] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
17 Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, Yu X, Wu Y, Zhao G, Tong Y, Jin ZB, Qu J, Gu F. Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. PLoS One 2014;9:e95528. [PMID: 24763286 DOI: 10.1371/journal.pone.0095528] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 2.9] [Reference Citation Analysis]
18 Pierce EA, Bennett J. The Status of RPE65 Gene Therapy Trials: Safety and Efficacy. Cold Spring Harb Perspect Med 2015;5:a017285. [PMID: 25635059 DOI: 10.1101/cshperspect.a017285] [Cited by in Crossref: 97] [Cited by in F6Publishing: 83] [Article Influence: 13.9] [Reference Citation Analysis]
19 Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM. Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. Genes (Basel) 2020;11:E1288. [PMID: 33138239 DOI: 10.3390/genes11111288] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M. Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PLoS One 2014;9:e104281. [PMID: 25133751 DOI: 10.1371/journal.pone.0104281] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
21 Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. PLoS One 2016;11:e0168271. [PMID: 27977773 DOI: 10.1371/journal.pone.0168271] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
22 Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 2014;22:99-104. [PMID: 23591405 DOI: 10.1038/ejhg.2013.72] [Cited by in Crossref: 168] [Cited by in F6Publishing: 158] [Article Influence: 18.7] [Reference Citation Analysis]
23 Jaffal L, Joumaa WH, Assi A, Helou C, Cherfan G, Zibara K, Audo I, Zeitz C, El Shamieh S. Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes (Basel) 2019;10:E1047. [PMID: 31888296 DOI: 10.3390/genes10121047] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
24 Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. Clin Genet 2017;92:109-11. [PMID: 27790702 DOI: 10.1111/cge.12909] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
25 Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S. High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. Am J Ophthalmol 2015;160:354-363.e9. [PMID: 25910913 DOI: 10.1016/j.ajo.2015.04.026] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 2.9] [Reference Citation Analysis]
26 Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R. Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Hum Mutat 2014;35:147-8. [PMID: 24123322 DOI: 10.1002/humu.22458] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 0.4] [Reference Citation Analysis]
27 Audo I, Mohand-said S, Boulanger-scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel J, Zeitz C. MERTK mutation update in inherited retinal diseases. Human Mutation 2018;39:887-913. [DOI: 10.1002/humu.23431] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 5.5] [Reference Citation Analysis]
28 Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes (Basel) 2017;8:E280. [PMID: 29053603 DOI: 10.3390/genes8100280] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
29 MacDonald IM, Moen C, Duncan JL, Tsang SH, Cehajic-Kapetanovic J, Aleman TS. Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations. Transl Vis Sci Technol 2020;9:17. [PMID: 32714643 DOI: 10.1167/tvst.9.3.17] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
30 Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet 2015;24:230-42. [PMID: 25168386 DOI: 10.1093/hmg/ddu441] [Cited by in Crossref: 85] [Cited by in F6Publishing: 80] [Article Influence: 10.6] [Reference Citation Analysis]
31 Davies WI. Challenges using diagnostic next-generation sequencing in the clinical environment for inherited retinal disorders. Per Med 2014;11:99-111. [PMID: 29751394 DOI: 10.2217/pme.13.95] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
32 Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG. 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. PLoS One. 2013;8:e78496. [PMID: 24265693 DOI: 10.1371/journal.pone.0078496] [Cited by in Crossref: 130] [Cited by in F6Publishing: 121] [Article Influence: 14.4] [Reference Citation Analysis]
33 Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet 2013;84:132-41. [PMID: 23701314 DOI: 10.1111/cge.12203] [Cited by in Crossref: 287] [Cited by in F6Publishing: 271] [Article Influence: 31.9] [Reference Citation Analysis]
34 Roberts L, Ratnapriya R, du Plessis M, Chaitankar V, Ramesar RS, Swaroop A. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Invest Ophthalmol Vis Sci 2016;57:6374-81. [PMID: 27898983 DOI: 10.1167/iovs.16-19785] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
35 Shen S, Sujirakul T, Tsang SH. Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase. Ophthalmic Genet 2014;35:142-50. [PMID: 24828262 DOI: 10.3109/13816810.2014.915328] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 1.5] [Reference Citation Analysis]
36 Strom SP, Clark MJ, Martinez A, Garcia S, Abelazeem AA, Matynia A, Parikh S, Sullivan LS, Bowne SJ, Daiger SP, Gorin MB. De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. PLoS One 2016;11:e0150944. [PMID: 26964041 DOI: 10.1371/journal.pone.0150944] [Cited by in Crossref: 26] [Cited by in F6Publishing: 26] [Article Influence: 4.3] [Reference Citation Analysis]
37 Vossen DM, Verhagen CVM, Grénman R, Kluin RJC, Verheij M, van den Brekel MWM, Wessels LFA, Vens C. Role of variant allele fraction and rare SNP filtering to improve cellular DNA repair endpoint association. PLoS One 2018;13:e0206632. [PMID: 30408064 DOI: 10.1371/journal.pone.0206632] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
38 Wood EH, Drenser KA, Hariprasad SM. Genetic Testing for Retina Specialists. Ophthalmic Surg Lasers Imaging Retina 2018;49:292-5. [DOI: 10.3928/23258160-20180501-01] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
39 Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options. Acta Ophthalmol 2020;98:e1034-48. [PMID: 32483926 DOI: 10.1111/aos.14479] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
40 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. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. PLoS One 2015;10:e0133624. [PMID: 26197217 DOI: 10.1371/journal.pone.0133624] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 2.6] [Reference Citation Analysis]
41 Messchaert M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ. EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa. Hum Mutat 2018;39:177-86. [PMID: 29159838 DOI: 10.1002/humu.23371] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 3.2] [Reference Citation Analysis]
42 Sun Y, Li W, Li JK, Wang ZS, Bai JY, Xu L, Xing B, Yang W, Wang ZW, Wang LS, He W, Chen F. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa. Mol Genet Genomic Med 2020;8:e1184. [PMID: 32100970 DOI: 10.1002/mgg3.1184] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
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44 Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med 2015;17:245-52. [PMID: 25790163 DOI: 10.1038/gim.2015.15] [Cited by in Crossref: 38] [Cited by in F6Publishing: 30] [Article Influence: 5.4] [Reference Citation Analysis]
45 Sahel JA, Grieve K, Pagot C, Authié C, Mohand-Said S, Paques M, Audo I, Becker K, Chaumet-Riffaud AE, Azoulay L, Gutman E, Léveillard T, Zeitz C, Picaud S, Dalkara D, Marazova K. Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision. Am J Ophthalmol 2021;230:12-47. [PMID: 34000280 DOI: 10.1016/j.ajo.2021.04.013] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Schnekenberg RP, Németh AH. Next-generation sequencing in childhood disorders. Arch Dis Child. 2014;99:284-290. [PMID: 24170689 DOI: 10.1136/archdischild-2012-302881] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
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48 Roca I, González-castro L, Maynou J, Palacios L, Fernández H, Couce ML, Fernández-marmiesse A. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes. Genomics 2020;112:1245-56. [DOI: 10.1016/j.ygeno.2019.07.011] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
49 Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. Clin Chim Acta 2013;423:62-5. [PMID: 23726269 DOI: 10.1016/j.cca.2013.04.015] [Cited by in Crossref: 10] [Cited by in F6Publishing: 4] [Article Influence: 1.1] [Reference Citation Analysis]
50 Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. JAMA Ophthalmol 2019;137:669-79. [PMID: 30998820 DOI: 10.1001/jamaophthalmol.2018.6367] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 6.5] [Reference Citation Analysis]
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52 Hull S, Kiray G, Chiang JP, Vincent AL. Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. Am J Med Genet C Semin Med Genet 2020;184:708-17. [PMID: 32856788 DOI: 10.1002/ajmg.c.31836] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
53 Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. Genes (Basel) 2018;9:E215. [PMID: 29659558 DOI: 10.3390/genes9040215] [Cited by in Crossref: 33] [Cited by in F6Publishing: 31] [Article Influence: 8.3] [Reference Citation Analysis]
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