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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. Among authors: thomas c. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Corvò A, Matalonga L, Spalding D, Senf A, Laurie S, Picó-Amador D, Fernandez-Callejo M, Paramonov I, Romero AF, Garcia-Rios E, Ciges JI, Mohan A, Thomas C, Silva Valencia AF, Halmagyi C, Freeberg MA, Töpf A, Horvath R, Saunders G, Gut I, Keane T, Piscia D, Beltran S. Corvò A, et al. Among authors: thomas c. Cell Genom. 2023 Jan 11;3(2):100246. doi: 10.1016/j.xgen.2022.100246. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819661 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.
The European Genome-phenome Archive in 2021.
Freeberg MA, Fromont LA, D'Altri T, Romero AF, Ciges JI, Jene A, Kerry G, Moldes M, Ariosa R, Bahena S, Barrowdale D, Barbero MC, Fernandez-Orth D, Garcia-Linares C, Garcia-Rios E, Haziza F, Juhasz B, Llobet OM, Milla G, Mohan A, Rueda M, Sankar A, Shaju D, Shimpi A, Singh B, Thomas C, de la Torre S, Uyan U, Vasallo C, Flicek P, Guigo R, Navarro A, Parkinson H, Keane T, Rambla J. Freeberg MA, et al. Among authors: thomas c. Nucleic Acids Res. 2022 Jan 7;50(D1):D980-D987. doi: 10.1093/nar/gkab1059. Nucleic Acids Res. 2022. PMID: 34791407 Free PMC article.
Prevalence and Prognostication of CD5+ Mature T-Cell Lymphomas.
Elghawy O, Cao M, Xu J, Landsburg DJ, Svoboda J, Nasta SD, Chong EA, Schuster SJ, Thomas CJ, Carter JS, Tavakkoli M, Ruella M, Barta SK. Elghawy O, et al. Among authors: thomas cj. Cancers (Basel). 2024 Oct 9;16(19):3430. doi: 10.3390/cancers16193430. Cancers (Basel). 2024. PMID: 39410047
Targeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the novel NAMPT Inhibitor OT-82.
Najera SS, Ricketts CJ, Schmidt LS, Medina JI, Saito K, Ileva L, Brender JR, James AM, Peer CJ, Gouker B, Karim BO, Chernova O, Wells C, Wei MH, Yang Y, Zhang X, Klumpp-Thomas C, Travers J, Chen L, Wilson KM, Issaq SH, Figg WD, Difilippantonio S, Kalen JD, Krishna MC, Thomas CJ, Ceribelli M, Heske CM, Crooks DR, Meier JL. Najera SS, et al. Among authors: thomas cj. Mol Cancer Ther. 2024 Oct 14. doi: 10.1158/1535-7163.MCT-24-0225. Online ahead of print. Mol Cancer Ther. 2024. PMID: 39397296
8,575 results