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428 results

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Page 1
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders.
Cupaioli FA, Mosca E, Magri C, Gennarelli M, Moscatelli M, Raggi ME, Landini M, Galluccio N, Villa L, Bonfanti A, Renieri A, Fallerini C, Minelli A, Marabotti A, Milanesi L, Fasano A, Mezzelani A. Cupaioli FA, et al. Among authors: renieri a. Sci Rep. 2023 Apr 18;13(1):6321. doi: 10.1038/s41598-023-33293-x. Sci Rep. 2023. PMID: 37072449 Free PMC article. No abstract available.
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: renieri a. 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.
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. Among authors: renieri a. 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.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. NPJ Genom Med. 2023 May 24;8(1):9. doi: 10.1038/s41525-023-00354-z. NPJ Genom Med. 2023. PMID: 37225732 Free PMC article. No abstract available.
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, De Vincentis G, Benvenuto M, D'Addetta P, Croci S, Baldassarri M, Bruttini M, Fallerini C, Brugnoni R, Cavalcante P, Baggi F, Corsini EMG, Ciusani E, Andreetta F, Dragani TA, Fratelli M, Carella M, Mantegazza RE, Renieri A, Colombo F. Esposito M, et al. Among authors: renieri a. Commun Med (Lond). 2024 Apr 4;4(1):63. doi: 10.1038/s43856-024-00490-2. Commun Med (Lond). 2024. PMID: 38575714 Free PMC article.
Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.
Vitale A, Caggiano V, Martin-Nares E, Frassi M, Dagna L, Hissaria P, Sfriso P, Hernández-Rodríguez J, Ruiz-Irastorza G, Monti S, Tufan A, Piga M, Giardini HAM, Lopalco G, Viapiana O, De Paulis A, Triggianese P, Vitetta R, de-la-Torre A, Fonollosa A, Caroni F, Sota J, Conticini E, Sbalchiero J, Renieri A, Casamassima G, Wiesik-Szewczyk E, Yildirim D, Hinojosa-Azaola A, Crisafulli F, Franceschini F, Campochiaro C, Tomelleri A, Callisto A, Beecher M, Bindoli S, Baggio C, Gómez-Caverzaschi V, Pelegrín L, Soto-Peleteiro A, Milanesi A, Vasi I, Cauli A, Antonelli IPB, Iannone F, Bixio R, Casa FD, Mormile I, Gurnari C, Fiorenza A, Mejia-Salgado G, Kawakami-Campos PA, Ragab G, Ciccia F, Ruscitti P, Bocchia M, Balistreri A, Tosi GM, Frediani B, Cantarini L, Fabiani C. Vitale A, et al. Among authors: renieri a. Semin Arthritis Rheum. 2024 Mar 18;66:152430. doi: 10.1016/j.semarthrit.2024.152430. Online ahead of print. Semin Arthritis Rheum. 2024. PMID: 38554594 Free article.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: renieri a. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
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: renieri a. Sci Rep. 2024 Feb 6;14(1):3000. doi: 10.1038/s41598-024-53310-x. Sci Rep. 2024. PMID: 38321133 Free PMC article.
428 results