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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.
Long COVID incidence in adults and children between 2020 and 2023: a real-world data study from the RECOVER Initiative.
Mandel H, Yoo Y, Allen A, Abedian S, Verzani Z, Karlson E, Kleinman L, Mudumbi P, Oliveira C, Muszynski J, Gross R, Carton T, Kim C, Taylor E, Park H, Divers J, Kelly J, Arnold J, Geary C, Zang C, Tantisira K, Rhee K, Koropsak M, Mohandas S, Vasey A, Weiner M, Mosa A, Haendel M, Chute C, Murphy S, O'Brien L, Szmuszkovicz J, Güthe N, Santana J, De A, Bogie A, Halabi K, Mohanraj L, Kinser P, Packard S, Tuttle K, Thorpe L, Moffitt R. Mandel H, et al. Among authors: oliveira c. Res Sq [Preprint]. 2024 Apr 26:rs.3.rs-4124710. doi: 10.21203/rs.3.rs-4124710/v1. Res Sq. 2024. PMID: 38746290 Free PMC article. Preprint.
Inflammatory markers in prepubertal children and their associations with abdominal fat.
de Queiroz LG, Collett-Solberg PF, de Souza MDGC, Rodrigues NCP, Grisolia AMM, Mendes CS, Januzzi FMG, de Oliveira CL, Bouskela E, Kuschnir MCC, Madeira IR. de Queiroz LG, et al. Among authors: de oliveira cl. J Pediatr (Rio J). 2024 May 8:S0021-7557(24)00065-2. doi: 10.1016/j.jped.2024.03.015. Online ahead of print. J Pediatr (Rio J). 2024. PMID: 38734032 Free article.
Allergic Dermatitis in Pêga Breed Donkeys (Equus asinus) Caused by Culicoides Bites in the Amazon Biome, Pará, Brazil.
Barbosa JD, Sodré MHS, Barbosa CC, da Costa PSC, Oliveira CMC, Ferreira TTA, da Silveira JAS, Lamego EC, Paz MC, Caldeira RD, Magalhães Matos PC, Serruya A, Salvarani FM, Silveira NDSES. Barbosa JD, et al. Among authors: oliveira cmc. Animals (Basel). 2024 Apr 29;14(9):1330. doi: 10.3390/ani14091330. Animals (Basel). 2024. PMID: 38731338 Free PMC article.
6,694 results