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Page 1
Diagnostic delay in monogenic disease: A scoping review.
Tinker RJ, Fisher M, Gimeno AF, Gill K, Ivey C, Peterson JF, Bastarache L. Tinker RJ, et al. Genet Med. 2024 Apr;26(4):101074. doi: 10.1016/j.gim.2024.101074. Epub 2024 Jan 17. Genet Med. 2024. PMID: 38243783 Free article. Review.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: tinker rj. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Shuey MM, Stead WW, Aka I, Barnado AL, Bastarache JA, Brokamp E, Campbell M, Carroll RJ, Goldstein JA, Lewis A, Malow BA, Mosley JD, Osterman T, Padovani-Claudio DA, Ramirez A, Roden DM, Schuler BA, Siew E, Sucre J, Thomsen I, Tinker RJ, Van Driest S, Walsh C, Warner JL, Wells QS, Wheless L, Bastarache L. Shuey MM, et al. Among authors: tinker rj. Bioinformatics. 2023 Nov 1;39(11):btad655. doi: 10.1093/bioinformatics/btad655. Bioinformatics. 2023. PMID: 37930895 Free PMC article.
Probable digenic inheritance of Diamond-Blackfan anemia.
Furuta Y, Tinker RJ, Gulsevin A, Neumann SM, Hamid R, Cogan JD, Rives L, Liu Q, Chen HC, Joos KM, Phillips JA 3rd; Undiagnosed Diseases Network. Furuta Y, et al. Among authors: tinker rj. Am J Med Genet A. 2024 Mar;194(3):e63454. doi: 10.1002/ajmg.a.63454. Epub 2023 Oct 27. Am J Med Genet A. 2024. PMID: 37897121
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Furuta Y, Nelson ET, Neumann SM, Phillips JA 3rd, Hamid R, Tinker RJ, Cogan JD, Rives L, Newman JH; Undiagnosed Diseases Network. Furuta Y, et al. Among authors: tinker rj. Am J Med Genet A. 2023 Dec;191(12):2873-2877. doi: 10.1002/ajmg.a.63383. Epub 2023 Aug 25. Am J Med Genet A. 2023. PMID: 37622199
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd; Undiagnosed Diseases Network. Tinker RJ, et al. Am J Med Genet A. 2023 Oct;191(10):2482-2492. doi: 10.1002/ajmg.a.63309. Epub 2023 May 29. Am J Med Genet A. 2023. PMID: 37246601
22 results