Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

117 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity.
Zhang S, Cooper-Knock J, Weimer AK, Harvey C, Julian TH, Wang C, Li J, Furini S, Frullanti E, Fava F, Renieri A, Pan C, Song J, Billing-Ross P, Gao P, Shen X, Timpanaro IS, Kenna KP; VA Million Veteran Program; GEN-COVID Network; Davis MM, Tsao PS, Snyder MP. Zhang S, et al. Among authors: furini s. medRxiv [Preprint]. 2021 Jun 21:2021.06.15.21258703. doi: 10.1101/2021.06.15.21258703. medRxiv. 2021. Update in: Cell Syst. 2022 Aug 17;13(8):598-614.e6. doi: 10.1016/j.cels.2022.05.007 PMID: 34189540 Free PMC article. Updated. Preprint.
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk.
Jermy B, Läll K, Wolford BN, Wang Y, Zguro K, Cheng Y, Kanai M, Kanoni S, Yang Z, Hartonen T, Monti R, Wanner J, Youssef O; Estonian Biobank research team; FinnGen; Lippert C, van Heel D, Okada Y, McCartney DL, Hayward C, Marioni RE, Furini S, Renieri A, Martin AR, Neale BM, Hveem K, Mägi R, Palotie A, Heyne H, Mars N, Ganna A, Ripatti S. Jermy B, et al. Among authors: furini s. Nat Commun. 2024 Jun 12;15(1):5007. doi: 10.1038/s41467-024-48938-2. Nat Commun. 2024. PMID: 38866767 Free PMC article.
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
Minnai F, Biscarini F, Esposito M, Dragani TA, Bujanda L, Rahmouni S, Alarcón-Riquelme ME, Bernardo D, Carnero-Montoro E, Buti M, Zeberg H, Asselta R, Romero-Gómez M; GEN-COVID Multicenter Study; Fernandez-Cadenas I, Fallerini C, Zguro K, Croci S, Baldassarri M, Bruttini M, Furini S, Renieri A, Colombo F. Minnai F, et al. Among authors: furini s. Sci Rep. 2024 Feb 6;14(1):3000. doi: 10.1038/s41598-024-53310-x. Sci Rep. 2024. PMID: 38321133 Free PMC article.
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M; Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU); Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M. Bonfiglio F, et al. Among authors: furini s. Hum Genomics. 2024 Nov 5;18(1):120. doi: 10.1186/s40246-024-00684-8. Hum Genomics. 2024. PMID: 39501379 Free PMC article. Review.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19.
Farias TDJ, Brugiapaglia S, Croci S, Magistroni P, Curcio C, Zguro K, Fallerini C, Fava F, Pettini F, Kichula KM, Pollock NR, Font-Porterias N, Palmer WH, Marin WM, Baldassarri M, Bruttini M, Hollenbach JA, Hendricks AE, Meloni I, Novelli F; GEN-COVID Multicenter Study Group; Renieri A, Furini S, Norman PJ, Amoroso A. Farias TDJ, et al. Among authors: furini s. HLA. 2024 Jan;103(1):e15251. doi: 10.1111/tan.15251. Epub 2023 Oct 18. HLA. 2024. PMID: 37850268 Free article.
117 results