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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. Among authors: leonardi e. 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.
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Bello L, et al. Among authors: leonardi e. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.
Fly cryptochrome and the visual system.
Mazzotta G, Rossi A, Leonardi E, Mason M, Bertolucci C, Caccin L, Spolaore B, Martin AJ, Schlichting M, Grebler R, Helfrich-Förster C, Mammi S, Costa R, Tosatto SC. Mazzotta G, et al. Among authors: leonardi e. Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):6163-8. doi: 10.1073/pnas.1212317110. Epub 2013 Mar 27. Proc Natl Acad Sci U S A. 2013. PMID: 23536301 Free PMC article.
BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data.
Giollo M, Minervini G, Scalzotto M, Leonardi E, Ferrari C, Tosatto SC. Giollo M, et al. Among authors: leonardi e. PLoS One. 2015 Apr 20;10(4):e0124579. doi: 10.1371/journal.pone.0124579. eCollection 2015. PLoS One. 2015. PMID: 25893845 Free PMC article.
211 results