Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2004 1
2008 1
2009 2
2011 1
2013 2
2014 4
2015 1
2016 2
2017 5
2018 6
2019 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
Page 1
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Zampaglione E, Maher M, Place EM, Wagner NE, DiTroia S, Chao KR, England E, Cmg B, Catomeris A, Nassiri S, Himes S, Pagliarulo J, Ferguson C, Galdikaité-Braziené E, Cole B, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2022 Feb;24(2):332-343. doi: 10.1016/j.gim.2021.09.015. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906470 Free PMC article.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Expanded clinical spectrum of enhanced S-cone syndrome.
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA. Yzer S, et al. JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. JAMA Ophthalmol. 2013. PMID: 23989059 Free PMC article.
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185. Invest Ophthalmol Vis Sci. 2011. PMID: 21217109
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. Wright AF, et al. Hum Mutat. 2004 Nov;24(5):439. doi: 10.1002/humu.9285. Hum Mutat. 2004. PMID: 15459973
22 results