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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: kelly ma, kelly jm. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network; Worthey EA. Holt JM, et al. Among authors: kelly jm. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. BMC Bioinformatics. 2019. PMID: 31615419 Free PMC article.
Synthesis and Anti-Chagas Activity Profile of a Redox-Active Lead 3-Benzylmenadione Revealed by High-Content Imaging.
Trometer N, Pecourneau J, Feng L, Navarro-Huerta JA, Lazarin-Bidóia D, de Oliveira Silva Lautenschlager S, Maes L, Fortes Francisco A, Kelly JM, Meunier B, Cal M, Mäser P, Kaiser M, Davioud-Charvet E. Trometer N, et al. Among authors: kelly jm. ACS Infect Dis. 2024 May 10;10(5):1808-1838. doi: 10.1021/acsinfecdis.4c00137. Epub 2024 Apr 12. ACS Infect Dis. 2024. PMID: 38606978
Optimisation-based modelling for explainable lead discovery in malaria.
Li Y, Cardoso-Silva J, Kelly JM, Delves MJ, Furnham N, Papageorgiou LG, Tsoka S. Li Y, et al. Among authors: kelly jm. Artif Intell Med. 2024 Jan;147:102700. doi: 10.1016/j.artmed.2023.102700. Epub 2023 Nov 22. Artif Intell Med. 2024. PMID: 38184363 Free article.
Short-course combination treatment for experimental chronic Chagas disease.
González S, Wall RJ, Thomas J, Braillard S, Brunori G, Camino Díaz I, Cantizani J, Carvalho S, Castañeda Casado P, Chatelain E, Cotillo I, Fiandor JM, Francisco AF, Grimsditch D, Keenan M, Kelly JM, Kessler A, Luise C, Lyon JJ, MacLean L, Marco M, Martin JJ, Martinez Martinez MS, Paterson C, Read KD, Santos-Villarejo A, Zuccotto F, Wyllie S, Miles TJ, De Rycker M. González S, et al. Among authors: kelly jm. Sci Transl Med. 2023 Dec 13;15(726):eadg8105. doi: 10.1126/scitranslmed.adg8105. Epub 2023 Dec 13. Sci Transl Med. 2023. PMID: 38091410 Free PMC article.
579 results