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Page 1
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2022 May;30(5):493-495. doi: 10.1038/s41431-021-01000-x. Epub 2021 Dec 17. Eur J Hum Genet. 2022. PMID: 34916614 Free PMC article.
Towards a European consensus for reporting incidental findings during clinical NGS testing.
Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN. Hehir-Kwa JY, et al. Among authors: genuardi m. Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3. Eur J Hum Genet. 2015. PMID: 26036857 Free PMC article.
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N. Vogelaar IP, et al. Among authors: genuardi m. Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6. Eur J Hum Genet. 2017. PMID: 28875981 Free PMC article.
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Among authors: genuardi m. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: genuardi m. Eur J Hum Genet. 2021 Feb;29(2):250-261. doi: 10.1038/s41431-020-00723-7. Epub 2020 Sep 14. Eur J Hum Genet. 2021. PMID: 32929237 Free PMC article.
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: genuardi m. Eur J Hum Genet. 2021 Feb;29(2):362. doi: 10.1038/s41431-020-00733-5. Eur J Hum Genet. 2021. PMID: 32968214 Free PMC article. No abstract available.
306 results