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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ. Clause AR, et al. Among authors: taft rj. Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819666 Free PMC article.
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: taft rj. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Jobanputra V, Schroeder B, Rehm HL, Shen W, Spiteri E, Nakouzi G, Taylor S, Marshall CR, Meng L, Kingsmore SF, Ellsworth K, Ashley E, Taft RJ; Medical Genome Initiative. Jobanputra V, et al. Among authors: taft rj. NPJ Genom Med. 2024 Mar 27;9(1):23. doi: 10.1038/s41525-024-00410-2. NPJ Genom Med. 2024. PMID: 38538605 Free PMC article. No abstract available.
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Chacaltana-Vinas C, Ramirez-Pajares P, Manrique-Palomino A, Clause AR, Chawla A, Thorpe E, Taft R, Rivera-Valdivia A, Sarapura-Castro E, Bazalar-Montoya J, Cornejo-Olivas M. Chacaltana-Vinas C, et al. Mov Disord Clin Pract. 2024 Mar 26. doi: 10.1002/mdc3.14025. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38532471 No abstract available.
Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs.
Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Russell BE, Servais L, Sund KL, Tsipouras P, Bick D, Taft RJ, Green RC; ICoNS Gene List Subcommittee. Minten T, et al. Among authors: taft rj. medRxiv [Preprint]. 2024 Apr 5:2024.03.24.24304797. doi: 10.1101/2024.03.24.24304797. medRxiv. 2024. PMID: 38585998 Free PMC article. Preprint.
116 results