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Year Number of Results
2016 3
2017 4
2018 1
2019 2
2020 4
2022 2
2023 4
2024 4

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19 results

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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. Genetics. 2023 May 4;224(1):iyad031. doi: 10.1093/genetics/iyad031. Genetics. 2023. PMID: 36866529 Free PMC article. Review.
MobiDB: 10 years of intrinsically disordered proteins.
Piovesan D, Del Conte A, Clementel D, Monzon AM, Bevilacqua M, Aspromonte MC, Iserte JA, Orti FE, Marino-Buslje C, Tosatto SCE. Piovesan D, et al. Nucleic Acids Res. 2023 Jan 6;51(D1):D438-D444. doi: 10.1093/nar/gkac1065. Nucleic Acids Res. 2023. PMID: 36416266 Free PMC article.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation.
Quaglia F, Mészáros B, Salladini E, Hatos A, Pancsa R, Chemes LB, Pajkos M, Lazar T, Peña-Díaz S, Santos J, Ács V, Farahi N, Fichó E, Aspromonte MC, Bassot C, Chasapi A, Davey NE, Davidović R, Dobson L, Elofsson A, Erdős G, Gaudet P, Giglio M, Glavina J, Iserte J, Iglesias V, Kálmán Z, Lambrughi M, Leonardi E, Longhi S, Macedo-Ribeiro S, Maiani E, Marchetti J, Marino-Buslje C, Mészáros A, Monzon AM, Minervini G, Nadendla S, Nilsson JF, Novotný M, Ouzounis CA, Palopoli N, Papaleo E, Pereira PJB, Pozzati G, Promponas VJ, Pujols J, Rocha ACS, Salas M, Sawicki LR, Schad E, Shenoy A, Szaniszló T, Tsirigos KD, Veljkovic N, Parisi G, Ventura S, Dosztányi Z, Tompa P, Tosatto SCE, Piovesan D. Quaglia F, et al. Nucleic Acids Res. 2022 Jan 7;50(D1):D480-D487. doi: 10.1093/nar/gkab1082. Nucleic Acids Res. 2022. PMID: 34850135 Free PMC article.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Aspromonte MC, Conte AD, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E. Aspromonte MC, et al. Res Sq [Preprint]. 2023 Aug 2:rs.3.rs-3209168. doi: 10.21203/rs.3.rs-3209168/v1. Res Sq. 2023. PMID: 37577579 Free PMC article. Preprint.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
19 results