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

164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J. Hildebrand JM, et al. Among authors: bassuk ag. Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z. Nat Commun. 2020. PMID: 32561755 Free PMC article.
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Cherepanova NS, et al. Among authors: bassuk ag. J Neurogenet. 2013 Jun;27(1-2):1-4. doi: 10.3109/01677063.2013.772176. Epub 2013 Mar 25. J Neurogenet. 2013. PMID: 23527921 Free PMC article.
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Paemka L, et al. Among authors: bassuk ag. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763846 Free PMC article.
164 results