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The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: lucano c. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Lagorce D, et al. Among authors: lucano c. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926714 Free PMC article.
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Mazzucato M, Pozza LVD, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. Mazzucato M, et al. Among authors: lucano c. Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. Orphanet J Rare Dis. 2023. PMID: 37667299 Free PMC article.
Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis.
Tucci F, Calbi V, Barzaghi F, Migliavacca M, Ferrua F, Bernardo ME, Canarutto D, Consiglieri G, Recupero S, Calzatini F, Gabaldo M, Lucano C, Casiraghi M, Darin S, Dionisio F, Marktel S, Cestone E, Finazzi R, Mieli-Vergani G, Boeri E, Appleby J, Abd Elaziz D, Ciceri F, Aiuti A, Cicalese MP. Tucci F, et al. Among authors: lucano c. Hepatology. 2018 Dec;68(6):2434-2437. doi: 10.1002/hep.30160. Epub 2018 Nov 13. Hepatology. 2018. PMID: 30014500 Free PMC article. No abstract available.
Notch is a direct negative regulator of the DNA-damage response.
Vermezovic J, Adamowicz M, Santarpia L, Rustighi A, Forcato M, Lucano C, Massimiliano L, Costanzo V, Bicciato S, Del Sal G, d'Adda di Fagagna F. Vermezovic J, et al. Among authors: lucano c. Nat Struct Mol Biol. 2015 May;22(5):417-24. doi: 10.1038/nsmb.3013. Epub 2015 Apr 20. Nat Struct Mol Biol. 2015. PMID: 25895060 Free article.
The endocytic adaptor Eps15 controls marginal zone B cell numbers.
Pozzi B, Amodio S, Lucano C, Sciullo A, Ronzoni S, Castelletti D, Adler T, Treise I, Betsholtz IH, Rathkolb B, Busch DH, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Betsholtz C, Casola S, Di Fiore PP, Offenhäuser N. Pozzi B, et al. Among authors: lucano c. PLoS One. 2012;7(11):e50818. doi: 10.1371/journal.pone.0050818. Epub 2012 Nov 30. PLoS One. 2012. PMID: 23226392 Free PMC article.