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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

253 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: pugh tj. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.
Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.
Quevedo R, Spreafico A, Bruce J, Danesh A, El Ghamrasni S, Giesler A, Hanna Y, Have C, Li T, Yang SYC, Zhang T, Asa SL, Haibe-Kains B, Krzyzanowska M, Smith AC, Singh S, Siu LL, Pugh TJ. Quevedo R, et al. Among authors: pugh tj. Genome Med. 2020 Apr 28;12(1):38. doi: 10.1186/s13073-020-00730-9. Genome Med. 2020. PMID: 32345369 Free PMC article.
Assessment of Genetic Drift in Large Pharmacogenomic Studies.
Quevedo R, Smirnov P, Tkachuk D, Ho C, El-Hachem N, Safikhani Z, Pugh TJ, Haibe-Kains B. Quevedo R, et al. Among authors: pugh tj. Cell Syst. 2020 Oct 21;11(4):393-401.e2. doi: 10.1016/j.cels.2020.08.012. Epub 2020 Sep 15. Cell Syst. 2020. PMID: 32937114 Free article.
An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency.
Oldfield LE, Li T, Tone A, Aronson M, Edwards M, Holter S, Quevedo R, Van de Laar E, Lerner-Ellis J, Pollett A, Clarke B, Tabori U, Gallinger S, Ferguson SE, Pugh TJ. Oldfield LE, et al. Among authors: pugh tj. J Mol Diagn. 2021 Feb;23(2):242-252. doi: 10.1016/j.jmoldx.2020.11.006. Epub 2020 Nov 28. J Mol Diagn. 2021. PMID: 33259954 Free article.
253 results