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Page 1
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.
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM. Daga S, et al. Among authors: zguro k. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01706-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424670
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: zguro k. 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: zguro k. 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: zguro k. HLA. 2024 Jan;103(1):e15251. doi: 10.1111/tan.15251. Epub 2023 Oct 18. HLA. 2024. PMID: 37850268 Free article.
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.
Bergantini L, Baldassarri M, d'Alessandro M, Brunelli G, Fabbri G, Zguro K, Degl'Innocenti A; GEN-COVID Multicenter study; Fallerini C, Bargagli E, Renieri A. Bergantini L, et al. Among authors: zguro k. Respir Res. 2023 Jun 16;24(1):158. doi: 10.1186/s12931-023-02458-7. Respir Res. 2023. PMID: 37328761 Free PMC article.
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.
Fallerini C, Daga S, Benetti E, Picchiotti N, Zguro K, Catapano F, Baroni V, Lanini S, Bucalossi A, Marotta G, Colombo F, Baldassarri M, Fava F, Beligni G, Di Sarno L, Alaverdian D, Palmieri M, Croci S, Isidori AM, Furini S, Frullanti E; GEN-COVID Multicenter Study; Renieri A, Mari F. Fallerini C, et al. Among authors: zguro k. J Hematol Oncol. 2023 Feb 15;16(1):11. doi: 10.1186/s13045-023-01415-7. J Hematol Oncol. 2023. PMID: 36793121 Free PMC article. No abstract available.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
29 results