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

Year Number of Results
1996 2
1999 1
2003 1
2004 1
2005 2
2006 2
2007 2
2008 1
2010 2
2011 3
2012 2
2013 1
2014 3
2015 1
2016 1
2017 1
2018 3
2019 2
2020 2
2021 7
2022 4
2023 5
2024 1

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46 results

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Page 1
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Among authors: cardaropoli s. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Among authors: cardaropoli s. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
Lateralized and Segmental Overgrowth in Children.
Mussa A, Carli D, Cardaropoli S, Ferrero GB, Resta N. Mussa A, et al. Among authors: cardaropoli s. Cancers (Basel). 2021 Dec 7;13(24):6166. doi: 10.3390/cancers13246166. Cancers (Basel). 2021. PMID: 34944785 Free PMC article. Review.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: cardaropoli s. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Helicobacter pylori and pregnancy-related disorders.
Cardaropoli S, Rolfo A, Todros T. Cardaropoli S, et al. World J Gastroenterol. 2014 Jan 21;20(3):654-64. doi: 10.3748/wjg.v20.i3.654. World J Gastroenterol. 2014. PMID: 24574739 Free PMC article. Review.
Review: Feto-placental vascularization: a multifaceted approach.
Todros T, Piccoli E, Rolfo A, Cardaropoli S, Guiot C, Gaglioti P, Oberto M, Vasario E, Caniggia I. Todros T, et al. Among authors: cardaropoli s. Placenta. 2011 Mar;32 Suppl 2:S165-9. doi: 10.1016/j.placenta.2010.12.020. Epub 2011 Jan 13. Placenta. 2011. PMID: 21232791 Free article. Review.
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
Mussa A, Carli D, Giorgio E, Villar AM, Cardaropoli S, Carbonara C, Campagnoli MF, Galletto P, Palumbo M, Olivieri S, Isella C, Andelfinger G, Tartaglia M, Botta G, Brusco A, Medico E, Ferrero GB. Mussa A, et al. Among authors: cardaropoli s. Genes (Basel). 2021 Dec 21;13(1):6. doi: 10.3390/genes13010006. Genes (Basel). 2021. PMID: 35052347 Free PMC article.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: cardaropoli s. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400
46 results