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 3
2004 4
2005 5
2006 6
2007 5
2008 3
2009 7
2010 4
2011 3
2012 6
2013 5
2014 8
2015 16
2016 10
2017 4
2018 5
2019 3
2020 2
2021 1
2022 7
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

100 results

Results by year

Filters applied: . Clear all
Page 1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: hoffjan s. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Gregor A, et al. Among authors: hoffjan s. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. Hum Mol Genet. 2022. PMID: 34505148 Free PMC article.
Trying to understand the genetics of atopic dermatitis.
Stemmler S, Hoffjan S. Stemmler S, et al. Among authors: hoffjan s. Mol Cell Probes. 2016 Dec;30(6):374-385. doi: 10.1016/j.mcp.2016.10.004. Epub 2016 Oct 8. Mol Cell Probes. 2016. PMID: 27725295 Review.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa María L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Ramond F, et al. Among authors: hoffjan s. Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549593 Free article.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: hoffjan s. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
The genetics of multiple sclerosis: an update 2010.
Hoffjan S, Akkad DA. Hoffjan S, et al. Mol Cell Probes. 2010 Oct;24(5):237-43. doi: 10.1016/j.mcp.2010.04.006. Epub 2010 May 5. Mol Cell Probes. 2010. PMID: 20450971 Review.
100 results