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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.
[Ethical guides, criteria for admission in intensive care, palliative care. Multi-society recommendations for allocation of resources during the COVID-19 pandemic].
Maglio I, Valdez P, Cámera L, Finn B, Klein M, Pincemin I, Ferraro H, Galvalisi N, Alessandrini G, Manera J, Musacchio H, Contreras P, Garea M, Lüthy V, Nemerovsky J, Baldomá F, Cherro A, Ranzuglia L, Malfante P, Salvioli M, García A. Maglio I, et al. Among authors: manera j. Medicina (B Aires). 2020;80 Suppl 3:45-64. Medicina (B Aires). 2020. PMID: 32658848 Free article. Spanish.
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: manera jad. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.
Serum 25-hydroxyvitamin D levels in hospitalized adults with community-acquired pneumonia.
Brance ML, Miljevic JN, Tizziani R, Taberna ME, Grossi GP, Toni P, Valentini E, Trepat A, Zaccardi J, Moro J, Finuci Curi B, Tamagnone N, Ramirez M, Severini J, Chiarotti P, Consiglio F, Piñeski R, Ghelfi A, Kilstein J, Street E, Moretti D, Oliveto V, Mariño M, Manera J, Brun LR. Brance ML, et al. Among authors: manera j. Clin Respir J. 2018 Jul;12(7):2220-2227. doi: 10.1111/crj.12792. Epub 2018 Apr 16. Clin Respir J. 2018. PMID: 29570946
[Morbidity observed in a health area: Impact on professionals and funding].
de Miguel P, Caballero I, Rivas FJ, Manera J, de Vicente MA, Gómez Á. de Miguel P, et al. Among authors: manera j. Aten Primaria. 2015 May;47(5):301-7. doi: 10.1016/j.aprim.2014.07.008. Epub 2014 Oct 23. Aten Primaria. 2015. PMID: 25444085 Free PMC article. Spanish.