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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.
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 Prevalence of Violence Against Healthcare Workers in Trinidad and Tobago.
Dookeeram D, Seetharaman H, Taylor L, Stoute C, Toppin T, Thomas C, Trim J, Thomas K, Stoute S, Caton K. Dookeeram D, et al. Among authors: thomas c. Cureus. 2024 Apr 13;16(4):e58182. doi: 10.7759/cureus.58182. eCollection 2024 Apr. Cureus. 2024. PMID: 38741873 Free PMC article.
Descriptive epidemiology of 30,223 histopathologically confirmed meningiomas in France: 2006-2015.
Depond CC, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Zemmoura I, Roche PH, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants, Investigators with the participation of the Société française de neurochirurgie (SFNC); Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP); Association des neuro-oncologues d’expression française (ANOCEF). Depond CC, et al. Acta Neurochir (Wien). 2024 May 14;166(1):214. doi: 10.1007/s00701-024-06093-z. Acta Neurochir (Wien). 2024. PMID: 38740641
8,397 results