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428 results

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Page 1
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.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: renieri a. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
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 Jun;66:152430. doi: 10.1016/j.semarthrit.2024.152430. Epub 2024 Mar 18. 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.
A Reverse Shoulder Arthroplasty Implantation With Custom-Made Humerus and Intraoperative GPS Navigation in a Rare Case of Unilateral Hip and Shoulder Dysplasia Associated With a Bone Marrow Mosaic PTEN Truncating Variant: Case Report.
Colasanti GB, Troiano E, De Sensi AG, Di Sarno L, Renieri A, Mondanelli N, Giannotti S. Colasanti GB, et al. Among authors: renieri a. J Shoulder Elb Arthroplast. 2023 Nov 7;7:24715492231211123. doi: 10.1177/24715492231211123. eCollection 2023. J Shoulder Elb Arthroplast. 2023. PMID: 38021086 Free PMC article.
428 results