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117 results

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Page 1
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM. Daga S, et al. Among authors: furini s. Eur J Hum Genet. 2020 Apr;28(4):480-490. doi: 10.1038/s41431-019-0537-8. Epub 2019 Nov 21. Eur J Hum Genet. 2020. PMID: 31754267 Free PMC article.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: furini s. Eur J Hum Genet. 2020 Sep;28(9):1231-1242. doi: 10.1038/s41431-020-0624-x. Epub 2020 Apr 24. Eur J Hum Genet. 2020. PMID: 32332872 Free PMC article.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. Croci S, et al. Among authors: furini s. Eur J Hum Genet. 2020 Oct;28(10):1446-1458. doi: 10.1038/s41431-020-0652-6. Epub 2020 Jun 15. Eur J Hum Genet. 2020. PMID: 32541681 Free PMC article.
Non-collagen genes role in digenic Alport syndrome.
Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. Among authors: furini s. BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5. BMC Nephrol. 2019. PMID: 30808327 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.
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.
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.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Among authors: furini s. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Host genetic basis of COVID-19: from methodologies to genes.
Zguro K, Fallerini C, Fava F, Furini S, Renieri A. Zguro K, et al. Among authors: furini s. Eur J Hum Genet. 2022 Aug;30(8):899-907. doi: 10.1038/s41431-022-01121-x. Epub 2022 May 27. Eur J Hum Genet. 2022. PMID: 35618891 Free PMC article. Review.
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.
117 results