PubMed (GeneRIF) for id: 7439

Year	Number of Results
2001	2
2002	2
2003	2
2004	3
2005	1
2006	9
2007	6
2008	8
2009	14
2010	12
2011	21
2012	9
2013	6
2014	6
2015	12
2016	12
2017	6
2018	7
2019	8
2020	11
2021	8
2022	8
2023	5
2024	2

1

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.

Shi J, Tian L, Sun T, Zhang X, Xu K, Xie Y, Peng X, Tang X, Jin ZB, Li Y. Shi J, et al. Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):37. doi: 10.1167/iovs.64.12.37. Invest Ophthalmol Vis Sci. 2023. PMID: 37747403 Free PMC article.

2

The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.

Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Mauro L, Pina A, Bandello F, Battaglia Parodi M. Bianco L, et al. Ophthalmol Retina. 2024 Mar;8(3):288-297. doi: 10.1016/j.oret.2023.09.012. Epub 2023 Sep 16. Ophthalmol Retina. 2024. PMID: 37717827

3

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

Dhoble P, Robson AG, Webster AR, Michaelides M. Dhoble P, et al. Ophthalmic Genet. 2024 Feb;45(1):38-43. doi: 10.1080/13816810.2023.2188227. Epub 2023 Mar 13. Ophthalmic Genet. 2024. PMID: 36908234

4

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP, Ahmad T. Haque OI, et al. BMC Ophthalmol. 2022 Dec 16;22(1):493. doi: 10.1186/s12886-022-02703-5. BMC Ophthalmol. 2022. PMID: 36527004 Free PMC article.

5

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.

Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E. Cideciyan AV, et al. Vision Res. 2023 Feb;203:108157. doi: 10.1016/j.visres.2022.108157. Epub 2022 Nov 28. Vision Res. 2023. PMID: 36450205 Free PMC article.

6

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.

Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W. Yang S, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2095. doi: 10.1002/mgg3.2095. Epub 2022 Nov 15. Mol Genet Genomic Med. 2023. PMID: 36378562 Free PMC article.

7

Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.

Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q. Wang Y, et al. Exp Eye Res. 2022 Oct;223:109217. doi: 10.1016/j.exer.2022.109217. Epub 2022 Aug 13. Exp Eye Res. 2022. PMID: 35973442

8

Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.

Navinés-Ferrer A, Ruiz-Nogales S, Navarro R, Pomares E. Navinés-Ferrer A, et al. Int J Mol Sci. 2022 Jul 4;23(13):7432. doi: 10.3390/ijms23137432. Int J Mol Sci. 2022. PMID: 35806438 Free PMC article.

9

Self-organization and surface properties of hBest1 in models of biological membranes.

Doumanov JA, Mladenova K, Moskova-Doumanova V, Andreeva TD, Petrova SD. Doumanov JA, et al. Adv Colloid Interface Sci. 2022 Apr;302:102619. doi: 10.1016/j.cis.2022.102619. Epub 2022 Feb 22. Adv Colloid Interface Sci. 2022. PMID: 35276535 Review.

10

Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Chowdhury S, Duvesh R, Kumaran M, Anjanamurthy R, Kumar J, Vanniarajan A, Devarajan B, Sundaresan P. Chowdhury S, et al. Ophthalmic Genet. 2022 Apr;43(2):191-200. doi: 10.1080/13816810.2021.1998553. Epub 2021 Nov 9. Ophthalmic Genet. 2022. PMID: 34751623

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