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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: posada m. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: posada m. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health.
Scattoni ML, Fatta LM, Micai M, Sali ME, Bellomo M, Salvitti T, Fulceri F, Castellano A, Molteni M, Gambino G, Posada M, Romano G, Puopolo M. Scattoni ML, et al. Among authors: posada m. Child Adolesc Psychiatry Ment Health. 2023 Oct 28;17(1):125. doi: 10.1186/s13034-023-00673-0. Child Adolesc Psychiatry Ment Health. 2023. PMID: 37898807 Free PMC article.
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: posada m. 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.
Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial.
Pracoń R, Spertus JA, Broderick S, Bangalore S, Rockhold FW, Ruzyllo W, Demchenko E, Nageh T, Grossman GB, Mavromatis K, Manjunath CN, Smanio PEP, Stone GW, Mancini GBJ, Boden WE, Newman JD, Reynolds HR, Hochman JS, Maron DJ; ISCHEMIA Research Group. Pracoń R, et al. Circ Cardiovasc Interv. 2024 Apr 17:e013435. doi: 10.1161/CIRCINTERVENTIONS.123.013435. Online ahead of print. Circ Cardiovasc Interv. 2024. PMID: 38629312
Impact of Complete Revascularization in the ISCHEMIA Trial.
Stone GW, Ali ZA, O'Brien SM, Rhodes G, Genereux P, Bangalore S, Mavromatis K, Horst J, Dressler O, Poh KK, Nath RK, Moorthy N, Witkowski A, Dwivedi SK, Bockeria O, Chen J, Smanio PEP, Picard MH, Chaitman BR, Berman DS, Shaw LJ, Boden WE, White HD, Fremes SE, Rosenberg Y, Reynolds HR, Spertus JA, Hochman JS, Maron DJ; ISCHEMIA Research Group. Stone GW, et al. J Am Coll Cardiol. 2023 Sep 19;82(12):1175-1188. doi: 10.1016/j.jacc.2023.06.015. Epub 2023 Jul 17. J Am Coll Cardiol. 2023. PMID: 37462593 Clinical Trial.
140 results