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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: furini s. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F, Bruno LP, Doddato G, Giliberti A, Tita R, Resciniti S, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Baldassarri M, Fabbiani A, Lamacchia V, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Valentino F, et al. Among authors: furini s. Brain Sci. 2021 Jul 16;11(7):936. doi: 10.3390/brainsci11070936. Brain Sci. 2021. PMID: 34356170 Free PMC article.
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: furini s. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Daga S, Fallerini C, Baldassarri M, Fava F, Valentino F, Doddato G, Benetti E, Furini S, Giliberti A, Tita R, Amitrano S, Bruttini M, Meloni I, Pinto AM, Raimondi F, Stella A, Biscarini F, Picchiotti N, Gori M, Pinoli P, Ceri S, Sanarico M, Crawley FP, Birolo G; GEN-COVID Multicenter Study; Renieri A, Mari F, Frullanti E. Daga S, et al. Among authors: furini s. Eur J Hum Genet. 2021 May;29(5):745-759. doi: 10.1038/s41431-020-00793-7. Epub 2021 Jan 17. Eur J Hum Genet. 2021. PMID: 33456056 Free PMC article. Clinical Trial.
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.
Fallerini C, Daga S, Mantovani S, Benetti E, Picchiotti N, Francisci D, Paciosi F, Schiaroli E, Baldassarri M, Fava F, Palmieri M, Ludovisi S, Castelli F, Quiros-Roldan E, Vaghi M, Rusconi S, Siano M, Bandini M, Spiga O, Capitani K, Furini S, Mari F; GEN-COVID Multicenter Study; Renieri A, Mondelli MU, Frullanti E. Fallerini C, et al. Among authors: furini s. Elife. 2021 Mar 2;10:e67569. doi: 10.7554/eLife.67569. Elife. 2021. PMID: 33650967 Free PMC article.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.
Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, Doddato G, Giliberti A, Marconi C, Musacchia F, Pippucci T, Torella A, Trezza A, Valentino F, Baldassarri M, Brusco A, Asselta R, Bruttini M, Furini S, Seri M, Nigro V, Matullo G, Tartaglia M, Mari F; GEN-COVID Multicenter Study; Renieri A, Pinto AM. Benetti E, et al. Among authors: furini s. Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17. Eur J Hum Genet. 2020. PMID: 32681121 Free PMC article.
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, Furini S; GEN-COVID Multicenter Study; Renieri A, Mari F. Benetti E, et al. Among authors: furini s. PLoS One. 2020 Nov 18;15(11):e0242534. doi: 10.1371/journal.pone.0242534. eCollection 2020. PLoS One. 2020. PMID: 33206719 Free PMC article.
117 results