PubMed for id: 895867

Year	Number of Results
1976	1
1982	1
1985	1
1988	1
1989	1
1991	2
1992	1
1994	1
1995	1
1997	1
1999	1
2000	2
2001	4
2002	1
2003	7
2004	3
2006	1
2007	4
2008	8
2009	3
2010	2
2011	3
2012	1
2013	3
2014	3
2015	7
2016	7
2017	3
2018	3
2019	9
2020	2
2021	7
2022	7
2023	12
2024	4

1

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.

Ali S, Baig S, Wanninayake S, da Silva Xavier G, Dawson C, Paisey R, Geberhiwot T. Ali S, et al. Diabetes Obes Metab. 2024 Mar;26(3):989-996. doi: 10.1111/dom.15398. Epub 2023 Dec 27. Diabetes Obes Metab. 2024. PMID: 38151964

2

Functional Vision in Patients With Biallelic USH2A Variants.

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Heon E, et al. Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21. Am J Ophthalmol. 2024. PMID: 38135239

3

IMPG2-Related Maculopathy.

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P. Birtel J, et al. Am J Ophthalmol. 2024 Feb;258:32-42. doi: 10.1016/j.ajo.2023.10.002. Epub 2023 Oct 6. Am J Ophthalmol. 2024. PMID: 37806544

4

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME. da Palma MM, et al. Ophthalmic Genet. 2024 Apr;45(2):167-174. doi: 10.1080/13816810.2023.2245035. Epub 2023 Aug 17. Ophthalmic Genet. 2024. PMID: 37592806

5

AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa.

Wu Y, Wan X, Zhao D, Chen X, Wang Y, Tang X, Li J, Li S, Sun X, Bi C, Zhang X. Wu Y, et al. Nat Commun. 2023 Aug 15;14(1):4923. doi: 10.1038/s41467-023-40655-6. Nat Commun. 2023. PMID: 37582961 Free PMC article.

6

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J, Sun Z, Zhang DW, Liu HL, Li T, Zhang S, Wu J. Wu J, et al. PeerJ. 2023 Aug 2;11:e15702. doi: 10.7717/peerj.15702. eCollection 2023. PeerJ. 2023. PMID: 37547722 Free PMC article.

7

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S. Sen P, et al. Indian J Ophthalmol. 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. Indian J Ophthalmol. 2023. PMID: 37322672 Free PMC article.

8

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.

Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JC. Ordoñez-Labastida V, et al. Mol Vis. 2023 Apr 29;29:31-38. eCollection 2023. Mol Vis. 2023. PMID: 37287646 Free PMC article.

9

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Ben Yosef T, Banin E, Chervinsky E, Shalev SA, Leibu R, Mezer E, Rotenstreich Y, Goldenberg-Cohen N, Weiss S, Khan MI, Panneman DM, Hitti-Malin RJ, Weiner C, Roosing S, Cremers FPM, Pras E, Zur D, Newman H, Deitch I, Sharon D, Ehrenberg M. Ben Yosef T, et al. Mol Vis. 2023 Apr 22;29:1-12. eCollection 2023. Mol Vis. 2023. PMID: 37287645 Free PMC article.

10

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Yahya S, Watson CM, Carr I, McKibbin M, Crinnion LA, Taylor M, Bonin H, Fletcher T, El-Asrag ME, Ali M, Toomes C, Inglehearn CF. Yahya S, et al. Mol Diagn Ther. 2023 Jul;27(4):525-535. doi: 10.1007/s40291-023-00656-z. Epub 2023 Jun 7. Mol Diagn Ther. 2023. PMID: 37284979 Free PMC article.

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