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

Text availability

Article attribute

Article type

Publication date

Search Results

129 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Identification of a SIRT1 mutation in a family with type 1 diabetes.
Biason-Lauber A, Böni-Schnetzler M, Hubbard BP, Bouzakri K, Brunner A, Cavelti-Weder C, Keller C, Meyer-Böni M, Meier DT, Brorsson C, Timper K, Leibowitz G, Patrignani A, Bruggmann R, Boily G, Zulewski H, Geier A, Cermak JM, Elliott P, Ellis JL, Westphal C, Knobel U, Eloranta JJ, Kerr-Conte J, Pattou F, Konrad D, Matter CM, Fontana A, Rogler G, Schlapbach R, Regairaz C, Carballido JM, Glaser B, McBurney MW, Pociot F, Sinclair DA, Donath MY. Biason-Lauber A, et al. Among authors: bruggmann r. Cell Metab. 2013 Mar 5;17(3):448-455. doi: 10.1016/j.cmet.2013.02.001. Cell Metab. 2013. PMID: 23473037 Free PMC article.
KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
Testoni S, Bartolone E, Rossi M, Patrignani A, Bruggmann R, Lichtner P, Tetens J, Gentile A, Drögemüller C. Testoni S, et al. Among authors: bruggmann r. PLoS One. 2012;7(9):e45634. doi: 10.1371/journal.pone.0045634. Epub 2012 Sep 27. PLoS One. 2012. PMID: 23029151 Free PMC article.
New insights into the performance of human whole-exome capture platforms.
Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G. Meienberg J, et al. Among authors: bruggmann r. Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27. Nucleic Acids Res. 2015. PMID: 25820422 Free PMC article.
Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms.
Greminger MP, Stölting KN, Nater A, Goossens B, Arora N, Bruggmann R, Patrignani A, Nussberger B, Sharma R, Kraus RH, Ambu LN, Singleton I, Chikhi L, van Schaik CP, Krützen M. Greminger MP, et al. Among authors: bruggmann r. BMC Genomics. 2014 Jan 10;15:16. doi: 10.1186/1471-2164-15-16. BMC Genomics. 2014. PMID: 24405840 Free PMC article.
Clinical sequencing: is WGS the better WES?
Meienberg J, Bruggmann R, Oexle K, Matyas G. Meienberg J, et al. Among authors: bruggmann r. Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742503 Free PMC article.
A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle.
Awasthi Mishra N, Drögemüller C, Jagannathan V, Keller I, Wüthrich D, Bruggmann R, Beck J, Schütz E, Brenig B, Demmel S, Moser S, Signer-Hasler H, Pieńkowska-Schelling A, Schelling C, Sande M, Rongen R, Rieder S, Kelsh RN, Mercader N, Leeb T. Awasthi Mishra N, et al. Among authors: bruggmann r. PLoS One. 2017 Jun 28;12(6):e0180170. doi: 10.1371/journal.pone.0180170. eCollection 2017. PLoS One. 2017. PMID: 28658273 Free PMC article.
129 results