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
2001 1
2002 2
2003 1
2004 1
2006 2
2007 1
2008 1
2009 2
2010 3
2011 4
2012 4
2013 2
2014 6
2015 2
2016 4
2017 4
2018 4
2019 3
2020 8
2021 6
2022 5
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

65 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.
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM, Liu Q, Pierce EA. Bujakowska KM, et al. Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):a028274. doi: 10.1101/cshperspect.a028274. Cold Spring Harb Perspect Biol. 2017. PMID: 28289063 Free PMC article. Review.
Paradigm Shifts in Ophthalmic Diagnostics.
Sebag J, Sadun AA, Pierce EA. Sebag J, et al. Trans Am Ophthalmol Soc. 2016 Aug;114:WP1. Trans Am Ophthalmol Soc. 2016. PMID: 28008209 Free PMC article. Review.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C. Solaguren-Beascoa M, et al. Clin Genet. 2021 Feb;99(2):298-302. doi: 10.1111/cge.13872. Epub 2020 Nov 9. Clin Genet. 2021. PMID: 33124039 Free PMC article.
65 results