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 Custom Filters

Results by year

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

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2006 1
2007 1
2008 1
2009 2
2012 1
2013 6
2015 5
2016 4
2017 3
2018 5
2019 3
2020 2
2021 7
2022 7
2023 6
2024 2
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

53 results

Results by year

Filters applied: . Clear all
Page 1
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Mutation of ATF6 causes autosomal recessive achromatopsia.
Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM. Ansar M, et al. Hum Genet. 2015 Sep;134(9):941-50. doi: 10.1007/s00439-015-1571-4. Epub 2015 Jun 11. Hum Genet. 2015. PMID: 26063662 Free PMC article.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.
Mice cloned from olfactory sensory neurons.
Eggan K, Baldwin K, Tackett M, Osborne J, Gogos J, Chess A, Axel R, Jaenisch R. Eggan K, et al. Among authors: tackett m. Nature. 2004 Mar 4;428(6978):44-9. doi: 10.1038/nature02375. Epub 2004 Feb 15. Nature. 2004. PMID: 14990966
53 results