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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.
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 nanoencapsulated oral formulation of fenretinide promotes local and metastatic breast cancer dormancy in HER2/neu transgenic mice.
De Angelis ML, Francescangeli F, Aricò E, Verachi P, Zucchetti M, Matteo C, Petricci E, Pilozzi E, Orienti I, Boe A, Eramo A, Rossi R, Corati T, Macchia D, Pacca AM, Zeuner A, Baiocchi M. De Angelis ML, et al. Among authors: rossi r. J Exp Clin Cancer Res. 2024 Nov 5;43(1):296. doi: 10.1186/s13046-024-03213-6. J Exp Clin Cancer Res. 2024. PMID: 39497135 Free PMC article.
Synaptic Vesicle Glycoprotein 2A: Features and Functions.
Rossi R, Arjmand S, Bærentzen SL, Gjedde A, Landau AM. Rossi R, et al. Front Neurosci. 2022 Apr 28;16:864514. doi: 10.3389/fnins.2022.864514. eCollection 2022. Front Neurosci. 2022. PMID: 35573314 Free PMC article. Review.
Mapping Satellite Glial Cell Heterogeneity Reveals Distinct Spatial Organization and Implies Functional Diversity in the Dorsal Root Ganglion.
Ahlgreen OA, Hansen MW, Baake J, Hybel TE, Rossi R, Lai X, Sankaranarayanan I, Pold JA, Lin L, Reinert L, Paludan SR, Price TJ, Pallesen LT, Vægter CB. Ahlgreen OA, et al. Among authors: rossi r. Adv Sci (Weinh). 2026 Jan;13(1):e11569. doi: 10.1002/advs.202511569. Epub 2025 Oct 24. Adv Sci (Weinh). 2026. PMID: 41134052 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Lung Cancer Organoids: The Rough Path to Personalized Medicine.
Rossi R, De Angelis ML, Xhelili E, Sette G, Eramo A, De Maria R, Cesta Incani U, Francescangeli F, Zeuner A. Rossi R, et al. Cancers (Basel). 2022 Jul 29;14(15):3703. doi: 10.3390/cancers14153703. Cancers (Basel). 2022. PMID: 35954367 Free PMC article. Review.
57 results