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Page 1
The Gene Ontology knowledgebase in 2023.
Gene Ontology Consortium; Aleksander SA, Balhoff J, Carbon S, Cherry JM, Drabkin HJ, Ebert D, Feuermann M, Gaudet P, Harris NL, Hill DP, Lee R, Mi H, Moxon S, Mungall CJ, Muruganugan A, Mushayahama T, Sternberg PW, Thomas PD, Van Auken K, Ramsey J, Siegele DA, Chisholm RL, Fey P, Aspromonte MC, Nugnes MV, Quaglia F, Tosatto S, Giglio M, Nadendla S, Antonazzo G, Attrill H, Dos Santos G, Marygold S, Strelets V, Tabone CJ, Thurmond J, Zhou P, Ahmed SH, Asanitthong P, Luna Buitrago D, Erdol MN, Gage MC, Ali Kadhum M, Li KYC, Long M, Michalak A, Pesala A, Pritazahra A, Saverimuttu SCC, Su R, Thurlow KE, Lovering RC, Logie C, Oliferenko S, Blake J, Christie K, Corbani L, Dolan ME, Drabkin HJ, Hill DP, Ni L, Sitnikov D, Smith C, Cuzick A, Seager J, Cooper L, Elser J, Jaiswal P, Gupta P, Jaiswal P, Naithani S, Lera-Ramirez M, Rutherford K, Wood V, De Pons JL, Dwinell MR, Hayman GT, Kaldunski ML, Kwitek AE, Laulederkind SJF, Tutaj MA, Vedi M, Wang SJ, D'Eustachio P, Aimo L, Axelsen K, Bridge A, Hyka-Nouspikel N, Morgat A, Aleksander SA, Cherry JM, Engel SR, Karra K, Miyasato SR, Nash RS, Skrzypek MS, Weng S, Wong ED, Bakker E, Berardini TZ, Reiser L, Auchincloss A, Axelsen K, Argoud-Puy G,… See abstract for full author list ➔ Gene Ontology Consortium, et al. Among authors: zarowiecki m. Genetics. 2023 May 4;224(1):iyad031. doi: 10.1093/genetics/iyad031. Genetics. 2023. PMID: 36866529 Free PMC article. Review.
WormBase 2024: status and transitioning to Alliance infrastructure.
Sternberg PW, Van Auken K, Wang Q, Wright A, Yook K, Zarowiecki M, Arnaboldi V, Becerra A, Brown S, Cain S, Chan J, Chen WJ, Cho J, Davis P, Diamantakis S, Dyer S, Grigoriadis D, Grove CA, Harris T, Howe K, Kishore R, Lee R, Longden I, Luypaert M, Müller HM, Nuin P, Quinton-Tulloch M, Raciti D, Schedl T, Schindelman G, Stein L. Sternberg PW, et al. Among authors: zarowiecki m. Genetics. 2024 May 7;227(1):iyae050. doi: 10.1093/genetics/iyae050. Genetics. 2024. PMID: 38573366 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
Genome-wide transcriptome analysis of Echinococcus multilocularis larvae and germinative cell cultures reveals genes involved in parasite stem cell function.
Herz M, Zarowiecki M, Wessels L, Pätzel K, Herrmann R, Braun C, Holroyd N, Huckvale T, Bergmann M, Spiliotis M, Koziol U, Berriman M, Brehm K. Herz M, et al. Among authors: zarowiecki m. Front Cell Infect Microbiol. 2024 Jan 25;14:1335946. doi: 10.3389/fcimb.2024.1335946. eCollection 2024. Front Cell Infect Microbiol. 2024. PMID: 38333034 Free PMC article.
A novel likely pathogenic CLCN5 variant in Dent's disease.
Hayward S, Norton J, Bownass L, Platt C; Genomics England Research Consortium; Campbell H, Watson E, Forrester N, Smithson S, Menon A. Hayward S, et al. BMC Nephrol. 2023 Aug 28;24(1):256. doi: 10.1186/s12882-023-03292-1. BMC Nephrol. 2023. PMID: 37641036 Free PMC article.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
78 results