Similar articles for PMID: 32037395

Year	Number of Results
2011	1
2012	1
2013	5
2014	4
2015	4
2016	14
2017	15
2018	16
2019	15
2020	11
2021	20
2022	22
2023	10
2024	0

1

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.

2

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA. Bujakowska KM, et al. Genet Med. 2017 Jun;19(6):643-651. doi: 10.1038/gim.2016.158. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735924 Free PMC article.

3

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K, Mihova K, Veleva N, Mermeklieva E, Mihaylova B, Dimitrova G, Oscar A, Shandurkov I, Cherninkova S, Kaneva R. Kamenarova K, et al. Mol Genet Genomic Med. 2022 Aug;10(8):e1997. doi: 10.1002/mgg3.1997. Epub 2022 Jun 3. Mol Genet Genomic Med. 2022. PMID: 35656873 Free PMC article.

4

[Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].

Liu XZ, Li YY, Yang LP. Liu XZ, et al. Beijing Da Xue Xue Bao Yi Xue Ban. 2020 Oct 18;52(5):836-844. doi: 10.19723/j.issn.1671-167X.2020.05.007. Beijing Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33047716 Free PMC article. Chinese.

5

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.

Huang XF, Mao JY, Huang ZQ, Rao FQ, Cheng FF, Li FF, Wang QF, Jin ZB. Huang XF, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):424-429. doi: 10.1167/iovs.16-20705. Invest Ophthalmol Vis Sci. 2017. PMID: 28118666

6

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM. Ellingford JM, et al. J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26. J Med Genet. 2018. PMID: 29074561 Free PMC article.

7

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

8

Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Gupta PR, Kheir W, Peng B, Duan J, Chiang JP, Iannaccone A. Gupta PR, et al. Mol Vis. 2022 Aug 16;28:203-219. eCollection 2022. Mol Vis. 2022. PMID: 36284670 Free PMC article.

9

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR. Wawrocka A, et al. Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018. Mol Vis. 2018. PMID: 29769798 Free PMC article.

10

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Van Schil K, et al. Genet Med. 2018 Feb;20(2):202-213. doi: 10.1038/gim.2017.97. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749477 Free PMC article.

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