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84 results

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Page 1
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Among authors: tinker rj. Am J Med Genet A. 2024 Jul;194(7):e63597. doi: 10.1002/ajmg.a.63597. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511854 Free PMC article.
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 PMC article.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: tinker rj. Genet Med. 2025 Apr;27(4):101347. doi: 10.1016/j.gim.2024.101347. Epub 2024 Dec 17. Genet Med. 2025. PMID: 39707840 Free article.
The Clinical Spectrum of Mosaic Genetic Disease.
Geiger H, Furuta Y, van Wyk S, Phillips JA 3rd, Tinker RJ. Geiger H, et al. Among authors: tinker rj. Genes (Basel). 2024 Sep 24;15(10):1240. doi: 10.3390/genes15101240. Genes (Basel). 2024. PMID: 39457364 Free PMC article. Review.
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 Free PMC article.
Prevalence of cataract among Australian commercial airline pilots.
Miura K, Coroneo M, Dusingize JC, Olsen CM, Tinker R, Karipidis K, Hosegood I, Green AC. Miura K, et al. Among authors: tinker r. Arch Environ Occup Health. 2023;78(1):7-13. doi: 10.1080/19338244.2022.2056110. Epub 2022 Mar 28. Arch Environ Occup Health. 2023. PMID: 35343880
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 Free PMC article.
84 results