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77 results

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Page 1
Hereditary diffuse gastric cancer: updated clinical practice guidelines.
Blair VR, McLeod M, Carneiro F, Coit DG, D'Addario JL, van Dieren JM, Harris KL, Hoogerbrugge N, Oliveira C, van der Post RS, Arnold J, Benusiglio PR, Bisseling TM, Boussioutas A, Cats A, Charlton A, Schreiber KEC, Davis JL, Pietro MD, Fitzgerald RC, Ford JM, Gamet K, Gullo I, Hardwick RH, Huntsman DG, Kaurah P, Kupfer SS, Latchford A, Mansfield PF, Nakajima T, Parry S, Rossaak J, Sugimura H, Svrcek M, Tischkowitz M, Ushijima T, Yamada H, Yang HK, Claydon A, Figueiredo J, Paringatai K, Seruca R, Bougen-Zhukov N, Brew T, Busija S, Carneiro P, DeGregorio L, Fisher H, Gardner E, Godwin TD, Holm KN, Humar B, Lintott CJ, Monroe EC, Muller MD, Norero E, Nouri Y, Paredes J, Sanches JM, Schulpen E, Ribeiro AS, Sporle A, Whitworth J, Zhang L, Reeve AE, Guilford P. Blair VR, et al. Among authors: gullo i. Lancet Oncol. 2020 Aug;21(8):e386-e397. doi: 10.1016/S1470-2045(20)30219-9. Lancet Oncol. 2020. PMID: 32758476 Free PMC article. Review.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 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.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Pathologist-Read vs AI-Driven Assessment of Tumor-Infiltrating Lymphocytes in Melanoma.
Aung TN, Liu M, Su D, Shafi S, Boyaci C, Steen S, Tsiknakis N, Vidal JM, Maher N, Micevic G, Tan SX, Vesely MD, Nourmohammadi S, Bai Y, Djureinovic D, Wong PF, Bates K, Chan NNN, Gavirelatou N, He M, Burela S, Barna R, Bosic M, Bräutigam K, Illabochaca I, Chenhao Z, Gama J, Kreis B, Mohacsi R, Pillar N, Pinto J, Poulios C, Toli MA, Tzoras E, Bracero Y, Bosisio F, Cserni G, Dema A, Fortarezza F, Gonzalez MS, Gullo I, Queipo Gutiérrez FJ, Hacihasanoglu E, Jovic V, Lazar B, Olinca M, Neppl C, Oliveira RC, Pezzuto F, Gomes Pinto D, Plotar V, Pop O, Rau T, Skok K, Sun W, Serbes ED, Solass W, Stanowska O, Szasz M, Szymonski K, Thimm F, Vignati D, Vigdorovits A, Prieto V, Sinnberg T, Wilmott J, Cowper S, Warrell J, Saenger Y, Hartman J, Plummer J, Osman I, Rimm DL, Acs B. Aung TN, et al. Among authors: gullo i. JAMA Netw Open. 2025 Jul 1;8(7):e2518906. doi: 10.1001/jamanetworkopen.2025.18906. JAMA Netw Open. 2025. PMID: 40608341 Free PMC article.
Spatial Analysis of Hereditary Diffuse Gastric Cancer Reveals Indolent Phenotype of Signet Ring Cell Precursors.
Gallanis AF, Gamble LA, Oguz C, Samaranayake SG, Kedei N, Hernandez MO, Wong M, Tillo D, Green BL, McClelland P, Bowden C, Gullo I, Raffeld M, Xi L, Kelly M, Miettinen M, Quezado M, Kim SA, Blakely AM, Lack J, Heller T, Hernandez JM, Davis JL. Gallanis AF, et al. Among authors: gullo i. Mol Cancer Res. 2025 Aug 4;23(8):699-709. doi: 10.1158/1541-7786.MCR-24-1039. Mol Cancer Res. 2025. PMID: 40192595
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.
A practical approach for PD-L1 evaluation in gastroesophageal cancer.
Angerilli V, Fassan M, Parente P, Gullo I, Campora M, Rossi C, Sacramento ML, Pennelli G, Vanoli A, Grillo F, Mastracci L. Angerilli V, et al. Among authors: gullo i. Pathologica. 2023 Apr;115(2):57-70. doi: 10.32074/1591-951X-836. Epub 2022 Dec 19. Pathologica. 2023. PMID: 36537078 Free PMC article. Review.
77 results