PubMed for id: 1261

Year	Number of Results
1993	1
1994	1
1997	2
1998	2
2000	1
2001	1
2002	2
2003	1
2004	6
2005	5
2006	2
2007	4
2008	3
2009	1
2010	4
2011	7
2012	1
2013	5
2014	4
2015	3
2016	1
2017	3
2018	6
2019	4
2020	2
2021	4
2022	3
2023	4
2024	0

1

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.

Solaki M, Wissinger B, Kohl S, Reuter P. Solaki M, et al. Genet Med. 2023 Dec;25(12):100979. doi: 10.1016/j.gim.2023.100979. Epub 2023 Sep 6. Genet Med. 2023. PMID: 37689994 Free article.

2

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.

Reuter P, Walter M, Kohl S, Weisschuh N. Reuter P, et al. Sci Rep. 2023 Feb 18;13(1):2896. doi: 10.1038/s41598-023-29452-9. Sci Rep. 2023. PMID: 36801918 Free PMC article.

3

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.

Yousaf S, Tariq N, Sajid Z, Sheikh SA, Kausar T, Waryah YM, Shaikh RS, Waryah AM, Sethna S, Riazuddin S, Ahmed ZM. Yousaf S, et al. Genes (Basel). 2022 Mar 29;13(4):617. doi: 10.3390/genes13040617. Genes (Basel). 2022. PMID: 35456423 Free PMC article.

4

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.

5

Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families.

Arshad MW, Lee Y, Malik MA, Khan J, Khan A, Kareem A, Kang C, Shabbir MI. Arshad MW, et al. J Pak Med Assoc. 2019 Feb;69(2):183-189. J Pak Med Assoc. 2019. PMID: 30804581

6

Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline.

Sun W, Zhang Q. Sun W, et al. Prog Mol Biol Transl Sci. 2019;161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711023 Review.

7

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.

Georgiou M, Litts KM, Kalitzeos A, Langlo CS, Kane T, Singh N, Kassilian M, Hirji N, Kumaran N, Dubra A, Carroll J, Michaelides M. Georgiou M, et al. Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):383-396. doi: 10.1167/iovs.18-25880. Invest Ophthalmol Vis Sci. 2019. PMID: 30682209 Free PMC article.

8

Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.

Kahle NA, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, Werner A, Seitz IP, Sothilingam V, Michalakis S, Biel M, Ueffing M, Zrenner E, Bartz-Schmidt KU, Fischer MD, Wilhelm BJC. Kahle NA, et al. Hum Gene Ther Clin Dev. 2018 Sep;29(3):121-131. doi: 10.1089/humc.2018.088. Hum Gene Ther Clin Dev. 2018. PMID: 30187779 Clinical Trial.

9

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.

Täger J, Kohl S, Birch DG, Wheaton DKH, Wissinger B, Reuter P. Täger J, et al. Exp Eye Res. 2018 Jun;171:48-53. doi: 10.1016/j.exer.2018.02.027. Epub 2018 Feb 27. Exp Eye Res. 2018. PMID: 29499183 Free PMC article.

10

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. Zobor D, et al. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. Invest Ophthalmol Vis Sci. 2017. PMID: 28159970

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