Similar articles for PMID: 30977563

Year	Number of Results
1999	1
2001	1
2002	2
2003	1
2004	1
2007	1
2008	1
2009	2
2010	2
2011	1
2012	3
2013	2
2014	1
2015	7
2016	8
2017	9
2018	12
2019	14
2020	9
2021	10
2022	8
2023	2
2024	0

1

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A, Place E, Pierce EA, Comander J. Wan A, et al. Hum Mutat. 2019 Aug;40(8):1127-1144. doi: 10.1002/humu.23762. Epub 2019 Jun 22. Hum Mutat. 2019. PMID: 30977563 Free PMC article.

2

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH. Davies WI, et al. Genet Med. 2012 Nov;14(11):891-9. doi: 10.1038/gim.2012.73. Epub 2012 Jul 12. Genet Med. 2012. PMID: 22791210 Free article.

3

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

de Sousa Dias M, Hernan I, Delás B, Pascual B, Borràs E, Gamundi MJ, Mañé B, Fernández-San José P, Ayuso C, Carballo M. de Sousa Dias M, et al. Mol Vis. 2015 Aug 18;21:857-70. eCollection 2015. Mol Vis. 2015. PMID: 26321861 Free PMC article.

4

Integration of Technical, Bioinformatic, and Variant Assessment Approaches in the Validation of a Targeted Next-Generation Sequencing Panel for Myeloid Malignancies.

Thomas M, Sukhai MA, Zhang T, Dolatshahi R, Harbi D, Garg S, Misyura M, Pugh T, Stockley TL, Kamel-Reid S. Thomas M, et al. Arch Pathol Lab Med. 2017 Jun;141(6):759-775. doi: 10.5858/arpa.2016-0547-RA. Epub 2017 Mar 9. Arch Pathol Lab Med. 2017. PMID: 28557600 Free article.

5

Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.

Roshandel D, Rafati M, Khorami S, Novin Baheran N, Jalali S, Tabatabaie R, Rezai S, Ahmadieh H, Ghaffari SR. Roshandel D, et al. Int Ophthalmol. 2019 Nov;39(11):2523-2531. doi: 10.1007/s10792-019-01099-4. Epub 2019 Apr 10. Int Ophthalmol. 2019. PMID: 30972525

6

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.

Hanany M, Sharon D. Hanany M, et al. J Med Genet. 2019 Aug;56(8):536-542. doi: 10.1136/jmedgenet-2018-105971. Epub 2019 Mar 25. J Med Genet. 2019. PMID: 30910914

7

Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.

Krebs MP, Holden DC, Joshi P, Clark CL 3rd, Lee AH, Kaushal S. Krebs MP, et al. J Mol Biol. 2010 Feb 5;395(5):1063-78. doi: 10.1016/j.jmb.2009.11.015. Epub 2009 Nov 11. J Mol Biol. 2010. PMID: 19913029

8

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM. Shah M, et al. Ophthalmic Genet. 2020 Aug;41(4):331-337. doi: 10.1080/13816810.2020.1778736. Epub 2020 Jun 16. Ophthalmic Genet. 2020. PMID: 32543920

9

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP. Amendola LM, et al. Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26. Am J Hum Genet. 2020. PMID: 33108757 Free PMC article.

10

Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.

Tsai GJ, Rañola JMO, Smith C, Garrett LT, Bergquist T, Casadei S, Bowen DJ, Shirts BH. Tsai GJ, et al. Genet Med. 2019 Jun;21(6):1435-1442. doi: 10.1038/s41436-018-0335-7. Epub 2018 Oct 30. Genet Med. 2019. PMID: 30374176 Free article.

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