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

Year Number of Results
2006 2
2007 1
2008 3
2009 4
2010 4
2011 2
2012 4
2013 4
2014 9
2015 4
2016 9
2017 4
2018 5
2019 4
2020 11
2021 20
2022 17
2023 12
2024 11

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115 results

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Page 1
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.
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.
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.
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.
Stanelle-Bertram S, Beck S, Mounogou NK, Schaumburg B, Stoll F, Al Jawazneh A, Schmal Z, Bai T, Zickler M, Beythien G, Becker K, de la Roi M, Heinrich F, Schulz C, Sauter M, Krasemann S, Lange P, Heinemann A, van Riel D, Leijten L, Bauer L, van den Bosch TPP, Lopuhaä B, Busche T, Wibberg D, Schaudien D, Goldmann T, Lüttjohann A, Ruschinski J, Jania H, Müller Z, Pinho Dos Reis V, Krupp-Buzimkic V, Wolff M, Fallerini C, Baldassarri M, Furini S, Norwood K, Käufer C, Schützenmeister N, von Köckritz-Blickwede M, Schroeder M, Jarczak D, Nierhaus A, Welte T, Kluge S, McHardy AC, Sommer F, Kalinowski J, Krauss-Etschmann S, Richter F, von der Thüsen J, Baumgärtner W, Klingel K, Ondruschka B; GEN-COVID Multicenter Study Group; Renieri A, Gabriel G. Stanelle-Bertram S, et al. Among authors: furini s. Cell Rep Med. 2023 Sep 19;4(9):101152. doi: 10.1016/j.xcrm.2023.101152. Epub 2023 Aug 12. Cell Rep Med. 2023. PMID: 37572667 Free PMC article.
115 results