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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D; DDD Study; Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M. Schirwani S, et al. Among authors: costa c. Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34436830 Free article.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
Cannabidiol: metabolism and clinical efficacy in epileptic patients.
Dell'Isola GB, Verrotti A, Sciaccaluga M, Dini G, Ferrara P, Parnetti L, Costa C. Dell'Isola GB, et al. Among authors: costa c. Expert Opin Drug Metab Toxicol. 2024 Mar;20(3):119-131. doi: 10.1080/17425255.2024.2329733. Epub 2024 Mar 12. Expert Opin Drug Metab Toxicol. 2024. PMID: 38465404 Review.
Platelet transfusions in adult ICU patients with thrombocytopenia: A sub-study of the PLOT-ICU inception cohort study.
Anthon CT, Pène F, Perner A, Azoulay E, Puxty K, Van De Louw A, Chawla S, Castro P, Povoa P, Coelho L, Metaxa V, Kochanek M, Liebregts T, Kander T, Sivula M, Andreasen JB, Nielsen LB, Hvas CL, Dufranc E, Canet E, Wright CJ, Schmidt J, Uhel F, Missri L, Krag M, Cos Badia E, Díaz-Lagares C, Menat S, Voiriot G, Erikstrup Clausen N, Lorentzen K, Kvåle R, Barratt-Due A, Hildebrandt T, Holten AR, Strand K, Bestle MH, Klepstad P, Vimpere D, Paulino C, Lueck C, Juhl CS, Costa C, Bådstøløkken PM, Lêdo LSA, Møller MH, Russell L. Anthon CT, et al. Among authors: costa c. Acta Anaesthesiol Scand. 2024 Jun 5. doi: 10.1111/aas.14467. Online ahead of print. Acta Anaesthesiol Scand. 2024. PMID: 38840310
A consensus reverse docking approach for identification of a competitive inhibitor of acetyltransferase enhanced intracellular survival protein from Mycobacterium tuberculosis.
Santos-Júnior PFDS, Batista VM, Nascimento IJDS, Nunes IC, Silva LR, Costa CACB, Freitas JD, Quintans-Júnior LJ, Araújo-Júnior JX, Freitas MEG, Zhan P, Green KD, Garneau-Tsodikova S, Mendonça-Júnior FJB, Rodrigues-Junior VS, Silva-Júnior EFD. Santos-Júnior PFDS, et al. Among authors: costa cacb. Bioorg Med Chem. 2024 May 26;108:117774. doi: 10.1016/j.bmc.2024.117774. Online ahead of print. Bioorg Med Chem. 2024. PMID: 38833750
4,438 results