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Retraction: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function.
Melo SA, Ropero S, Moutinho C, Aaltonen LA, Yamamoto H, Calin GA, Rossi S, Fernandez AF, Carneiro F, Oliveira C, Ferreira B, Liu CG, Villanueva A, Capella G, Schwartz S Jr, Shiekhattar R, Esteller M. Melo SA, et al. Among authors: oliveira c. Nat Genet. 2016 Feb;48(2):221. doi: 10.1038/ng0216-221. Nat Genet. 2016. PMID: 26813765 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.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. Among authors: oliveira c. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
São José C, Garcia-Pelaez J, Ferreira M, Arrieta O, André A, Martins N, Solís S, Martínez-Benítez B, Ordóñez-Sánchez ML, Rodríguez-Torres M, Sommer AK, Te Paske IBAW, Caldas C, Tischkowitz M, Tusié MT; Solve-RD DITF-GENTURIS; Hoogerbrugge N, Demidov G, de Voer RM, Laurie S, Oliveira C. São José C, et al. Among authors: oliveira c. Gastric Cancer. 2023 Sep;26(5):653-666. doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30. Gastric Cancer. 2023. PMID: 37249750 Free PMC article.
Vaccine coverage by social strata in state capitals in the Brazilian Midwest region: a household survey of children born in 2017 and 2018.
Lima JC, Garcia ÉM, Oliveira SMDVL, Araújo WN, Lopes EMF, Teles SA, Caetano KAA, Teixeira AIP, Alves BMCS, França AP, Moraes JC, Domingues CMAS; ICV 2020 Group; Silva AID, Ramos AN Jr, França AP, Oliveira ANM, Boing AF, Domingues CMAS, Oliveira CS, Maciel ELN, Guibu IA, Mirabal IRB, Barbosa JC, Lima JC, Moraes JC, Luhm KR, Caetano KAA, Lima LHO, Antunes MBC, Teixeira MDG, Teixeira MDC, Borges MFSO, Queiroz RCS, Gurgel RQ, Barata RB, Azevedo RNC, Oliveira SMDVL, Teles SA, Gama SGND, Mengue SS, Simões TC, Nascimento V, Araújo WN. Lima JC, et al. Among authors: oliveira cs. Epidemiol Serv Saude. 2024 Nov 1;33(spe2):e20231308. doi: 10.1590/S2237-96222024v33e20231308.especial2.en. eCollection 2024. Epidemiol Serv Saude. 2024. PMID: 39504082 Free article. English, Portuguese.
Vaccination coverage, hesitancy and associated factors: a household survey of a cohort of children born in 2017 and 2018 in urban areas of state capital cities in the Brazilian Northeast.
Saavedra RDC, Santiago MSIC, Teixeira MDGLC, Antunes MBC, Queiroz RCS, Lima LHO, Ramos AN Jr, Ferreira AF, Maciel AMS, Barbosa JC, França AP, Domingues CMAS, Moraes JC; ICV 2020 Group; Silva AID, Ramos AN Jr, França AP, Oliveira ANM, Boing AF, Domingues CMAS, Oliveira CS, Maciel ELN, Guibu IA, Mirabal IRB, Barbosa JC, Lima JC, Moraes JC, Luhm KR, Caetano KAA, Lima LHO, Antunes MBC, Teixeira MDGLC, Teixeira MDC, Borges MFSO, Queiroz RCS, Gurgel RQ, Barata RB, Azevedo RNC, Oliveira SMDVL, Teles SA, Gama SGND, Mengue SS, Simões TC, Nascimento V, Araújo WN. Saavedra RDC, et al. Among authors: oliveira cs. Epidemiol Serv Saude. 2024 Nov 1;33(spe2):e20231298. doi: 10.1590/S2237-96222024v33e20231298.especial2.en. eCollection 2024. Epidemiol Serv Saude. 2024. PMID: 39504081 Free article. English, Portuguese.
6,938 results