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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1954 1
1957 1
1962 1
1982 1
1985 1
1990 1
1993 1
1994 2
1995 4
1997 2
1998 1
1999 1
2006 2
2007 3
2008 3
2009 1
2010 4
2011 2
2013 2
2017 1
2018 3
2019 5
2020 5
2021 7
2022 8
2023 9
2024 12

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75 results

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Page 1
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
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. Review.
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.
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.
A coherent framework for non-ionising radiation protection.
Tinker R, Abramowicz J, Karabetsos E, Magnusson S, Matthes R, Moser M, Niu S, O'Hagan J, van Deventer E. Tinker R, et al. J Radiol Prot. 2022 Jan 12;42(1). doi: 10.1088/1361-6498/ac3bc3. J Radiol Prot. 2022. PMID: 34801993
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
75 results