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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1968 1
1969 8
1970 5
1972 1
1974 1
1977 1
1982 1
1984 1
1985 1
1986 5
1988 2
1989 2
1990 3
1992 2
1994 3
1996 2
1997 5
1998 3
1999 3
2000 1
2001 11
2002 4
2003 12
2004 4
2005 1
2006 4
2008 4
2009 5
2010 12
2011 9
2012 11
2013 12
2014 10
2015 6
2016 9
2017 13
2018 2
2019 6
2020 10
2021 12
2022 11
2023 6
2024 8
2025 7

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220 results

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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: leonardi e. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC, Del Conte A, Polli R, Baldo D, Benedicenti F, Bettella E, Bigoni S, Boni S, Ciaccio C, D'Arrigo S, Donati I, Granocchio E, Mammi I, Milani D, Negrin S, Nosadini M, Soli F, Stanzial F, Turolla L, Piovesan D, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: leonardi e. Hum Genet. 2025 Mar;144(2-3):309-326. doi: 10.1007/s00439-025-02733-1. Epub 2025 Feb 28. Hum Genet. 2025. PMID: 40019509 Free PMC article.
SARS-CoV-2-The Role of Natural Immunity: A Narrative Review.
Diani S, Leonardi E, Cavezzi A, Ferrari S, Iacono O, Limoli A, Bouslenko Z, Natalini D, Conti S, Mantovani M, Tramonte S, Donzelli A, Serravalle E. Diani S, et al. Among authors: leonardi e. J Clin Med. 2022 Oct 25;11(21):6272. doi: 10.3390/jcm11216272. J Clin Med. 2022. PMID: 36362500 Free PMC article. Review.
Decoding protein structures with residue interaction networks.
Begue SC, Leonardi E, Tosatto SCE. Begue SC, et al. Among authors: leonardi e. Trends Biochem Sci. 2025 Sep 5:S0968-0004(25)00195-1. doi: 10.1016/j.tibs.2025.08.006. Online ahead of print. Trends Biochem Sci. 2025. PMID: 40914688 Free article. Review.
Critical assessment of protein intrinsic disorder prediction.
Necci M, Piovesan D; CAID Predictors; DisProt Curators; Tosatto SCE. Necci M, et al. Nat Methods. 2021 May;18(5):472-481. doi: 10.1038/s41592-021-01117-3. Epub 2021 Apr 19. Nat Methods. 2021. PMID: 33875885 Free PMC article.
220 results