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

147 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Among authors: timms a. 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.
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M, Sobering AK. Urreizti R, et al. Among authors: timms ae. Am J Med Genet A. 2025 Apr 29:e64095. doi: 10.1002/ajmg.a.64095. Online ahead of print. Am J Med Genet A. 2025. PMID: 40298439
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Bard AM, Clark LV, Cosgun E, Aldinger KA, Timms A, Quina LA, Ferres JML, Jardine D, Haas EA, Becker TM, Pagan CM, Santani A, Martinez D, Barua S, McNutt Z, Nesbitt A, Mitchell EA, Ramirez JM. Bard AM, et al. Among authors: timms a. Am J Med Genet A. 2024 Nov;194(11):e63596. doi: 10.1002/ajmg.a.63596. Epub 2024 Jun 19. Am J Med Genet A. 2024. PMID: 38895864
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM, Clark LV, Cosgun E, Aldinger KA, Timms A, Quina LA, Lavista Ferres JM, Jardine D, Haas EA, Becker TM, Pagan CM, Santani A, Martinez D, Barua S, McNutt Z, Nesbitt A, Mitchell EA, Ramirez JM. Bard AM, et al. Among authors: timms a. medRxiv [Preprint]. 2023 Nov 29:2023.09.11.23295207. doi: 10.1101/2023.09.11.23295207. medRxiv. 2023. Update in: Am J Med Genet A. 2024 Nov;194(11):e63596. doi: 10.1002/ajmg.a.63596. PMID: 37745463 Free PMC article. Updated. Preprint.
Non-Toxigenic Clostridioides difficile Strain E4 (NTCD-E4) Prevents Establishment of Primary C. difficile Infection by Epidemic PCR Ribotype 027 in an In Vitro Human Gut Model.
Etifa P, Rodríguez C, Harmanus C, Sanders IMJG, Sidorov IA, Mohammed OA, Savage E, Timms AR, Freeman J, Smits WK, Wilcox MH, Baines SD. Etifa P, et al. Among authors: timms ar. Antibiotics (Basel). 2023 Feb 22;12(3):435. doi: 10.3390/antibiotics12030435. Antibiotics (Basel). 2023. PMID: 36978302 Free PMC article.
147 results