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Year Number of Results
2005 3
2006 1
2007 4
2008 9
2009 6
2010 6
2011 5
2012 9
2013 15
2014 12
2015 10
2016 17
2017 16
2018 16
2019 17
2020 27
2021 37
2022 28
2023 23
2024 8

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228 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: tavares alt. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Proceedings of the 3rd IPLeiria's International Health Congress : Leiria, Portugal. 6-7 May 2016.
Tomás CC, Oliveira E, Sousa D, Uba-Chupel M, Furtado G, Rocha C, Teixeira A, Ferreira P, Alves C, Gisin S, Catarino E, Carvalho N, Coucelo T, Bonfim L, Silva C, Franco D, González JA, Jardim HG, Silva R, Baixinho CL, Presado MªH, Marques MªF, Cardoso ME, Cunha M, Mendes J, Xavier A, Galhardo A, Couto M, Frade JG, Nunes C, Mesquita JR, Nascimento MS, Gonçalves G, Castro C, Mártires A, Monteiro MªJ, Rainho C, Caballero FP, Monago FM, Guerrero JT, Monago RM, Trigo AP, Gutierrez ML, Milanés GM, Reina MG, Villanueva AG, Piñero AS, Aliseda IR, Ramirez FB, Ribeiro A, Quelhas A, Manso C, Caballero FP, Guerrero JT, Monago FM, Santos RB, Jimenez NR, Nuñez CG, Gomez IR, Fernandez MªJL, Marquez LA, Moreno AL, Huertas MªJT, Ramirez FB, Seabra D, Salvador MªC, Braga L, Parreira P, Salgueiro-Oliveira A, Arreguy-Sena C, Oliveira BF, Henriques MªA, Santos J, Lebre S, Marques A, Festas C, Rodrigues S, Ribeiro A, Lumini J, Figueiredo AG, Hernandez-Martinez FJ, Campi L, Quintana-Montesdeoca MªP, Jimenez-Diaz JF, Rodriguez-De-Vera BC, Parente A, Mata MªA, Pereira AMª, Fernandes A, Brás M, Pinto MªR, Parreira P, Basto ML, Rei AC, Mónico LM, Sousa G, Morna C, Freitas O, Freitas G, Jardim A, Vasconcelos … See abstract for full author list ➔ Tomás CC, et al. Among authors: tavares as, tavares a. BMC Health Serv Res. 2016 Jul 6;16 Suppl 3(Suppl 3):200. doi: 10.1186/s12913-016-1423-5. BMC Health Serv Res. 2016. PMID: 27409075 Free PMC article.
Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study.
Labeau SO, Afonso E, Benbenishty J, Blackwood B, Boulanger C, Brett SJ, Calvino-Gunther S, Chaboyer W, Coyer F, Deschepper M, François G, Honore PM, Jankovic R, Khanna AK, Llaurado-Serra M, Lin F, Rose L, Rubulotta F, Saager L, Williams G, Blot SI; DecubICUs Study Team; European Society of Intensive Care Medicine (ESICM) Trials Group Collaborators. Labeau SO, et al. Intensive Care Med. 2021 Feb;47(2):160-169. doi: 10.1007/s00134-020-06234-9. Epub 2020 Oct 9. Intensive Care Med. 2021. PMID: 33034686 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Among authors: tavares alt. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases.
Barturen G, Babaei S, Català-Moll F, Martínez-Bueno M, Makowska Z, Martorell-Marugán J, Carmona-Sáez P, Toro-Domínguez D, Carnero-Montoro E, Teruel M, Kerick M, Acosta-Herrera M, Le Lann L, Jamin C, Rodríguez-Ubreva J, García-Gómez A, Kageyama J, Buttgereit A, Hayat S, Mueller J, Lesche R, Hernandez-Fuentes M, Juarez M, Rowley T, White I, Marañón C, Gomes Anjos T, Varela N, Aguilar-Quesada R, Garrancho FJ, López-Berrio A, Rodriguez Maresca M, Navarro-Linares H, Almeida I, Azevedo N, Brandão M, Campar A, Faria R, Farinha F, Marinho A, Neves E, Tavares A, Vasconcelos C, Trombetta E, Montanelli G, Vigone B, Alvarez-Errico D, Li T, Thiagaran D, Blanco Alonso R, Corrales Martínez A, Genre F, López Mejías R, Gonzalez-Gay MA, Remuzgo S, Ubilla Garcia B, Cervera R, Espinosa G, Rodríguez-Pintó I, De Langhe E, Cremer J, Lories R, Belz D, Hunzelmann N, Baerlecken N, Kniesch K, Witte T, Lehner M, Stummvoll G, Zauner M, Aguirre-Zamorano MA, Barbarroja N, Castro-Villegas MC, Collantes-Estevez E, de Ramon E, Díaz Quintero I, Escudero-Contreras A, Fernández Roldán MC, Jiménez Gómez Y, Jiménez Moleón I, Lopez-Pedrera R, Ortega-Castro R, Ortego N, Raya E, Artusi C, Gerosa M, Meroni PL, Schio… See abstract for full author list ➔ Barturen G, et al. Among authors: tavares a. Arthritis Rheumatol. 2021 Jun;73(6):1073-1085. doi: 10.1002/art.41610. Epub 2021 Apr 26. Arthritis Rheumatol. 2021. PMID: 33497037 Free article.
Long-COVID-19 clinical and health outcomes: an umbrella review.
Li H, Xia J, Bennett D, Roque F, Bam RA, Tavares ABT, Gokhale M, Ida F, Rhee JJ, Soriano Gabarro M, Song Y. Li H, et al. Among authors: tavares abt. Ther Adv Infect Dis. 2023 Sep 13;10:20499361231198335. doi: 10.1177/20499361231198335. eCollection 2023 Jan-Dec. Ther Adv Infect Dis. 2023. PMID: 37720384 Free PMC article. Review.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
[Iodinated contrast agents].
Pintassilgo Santos A, Mascarenhas Gaivão A, Tavares A, Ferreira S. Pintassilgo Santos A, et al. Among authors: tavares a. Acta Med Port. 2009 May-Jun;22(3):261-74. Epub 2009 Jul 15. Acta Med Port. 2009. PMID: 19686627 Free article. Review. Portuguese.
228 results