PubMed for id: 355339

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

1

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. Hassan MJ, et al. Hum Genet. 2006 Jan;118(5):605-10. doi: 10.1007/s00439-005-0079-8. Epub 2005 Oct 29. Hum Genet. 2006. PMID: 16261342 Free PMC article.

2

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.

Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C. Behlouli A, et al. Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55. Orphanet J Rare Dis. 2014. PMID: 24741995 Free PMC article.

3

Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile.

Cifuentes L, Arancibia M, Torrente M, Acuña M, Farfán C, Ríos C. Cifuentes L, et al. Biol Res. 2013;46(3):239-42. doi: 10.4067/S0716-97602013000300003. Biol Res. 2013. PMID: 24346070 Free article.

4

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P. Yuan Y, et al. PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21. PLoS One. 2012. PMID: 23185506 Free PMC article.

5

Successful large gene augmentation of USH2A with non-viral episomal vectors.

Toms M, Toualbi L, Almeida PV, Harbottle R, Moosajee M. Toms M, et al. Mol Ther. 2023 Sep 6;31(9):2755-2766. doi: 10.1016/j.ymthe.2023.06.012. Epub 2023 Jun 19. Mol Ther. 2023. PMID: 37337429 Free article.

6

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.

Sharkia R, Jain S, Mahajnah M, Habib C, Azem A, Al-Shareef W, Zalan A. Sharkia R, et al. Genes (Basel). 2023 Apr 30;14(5):1031. doi: 10.3390/genes14051031. Genes (Basel). 2023. PMID: 37239392 Free PMC article.

7

A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.

Major L, McClements ME, MacLaren RE. Major L, et al. Int J Mol Sci. 2023 Apr 20;24(8):7603. doi: 10.3390/ijms24087603. Int J Mol Sci. 2023. PMID: 37108761 Free PMC article. Review.

8

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH. Karimzadeh P, et al. Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6. Neuromuscul Disord. 2022. PMID: 36309462 Review.

9

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.

Major L, McClements ME, MacLaren RE. Major L, et al. Int J Mol Sci. 2022 Oct 1;23(19):11669. doi: 10.3390/ijms231911669. Int J Mol Sci. 2022. PMID: 36232969 Free PMC article. Review.

10

Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.

Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S; Foundation Fighting Blindness Consortium Investigator Group. Lad EM, et al. Am J Ophthalmol. 2022 Dec;244:98-116. doi: 10.1016/j.ajo.2022.08.013. Epub 2022 Aug 22. Am J Ophthalmol. 2022. PMID: 36007554 Free PMC article.

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