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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Among authors: kobayashi y. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: kobayashi y. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.
Applications of artificial intelligence in clinical laboratory genomics.
Aradhya S, Facio FM, Metz H, Manders T, Colavin A, Kobayashi Y, Nykamp K, Johnson B, Nussbaum RL. Aradhya S, et al. Among authors: kobayashi y. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32057. doi: 10.1002/ajmg.c.32057. Epub 2023 Jul 28. Am J Med Genet C Semin Med Genet. 2023. PMID: 37507620 Review.
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR, Stafford DA, Tan CA, Silvis MR, Jamieson K, Keyser A, Nunez PAC, Nicoludis JM, Manders T, Fresard L, Kobayashi Y, Araya CL, Aradhya S, Johnson B, Nykamp K, Reuter JA. Padigepati SR, et al. Among authors: kobayashi y. Hum Genet. 2024 Aug;143(8):995-1004. doi: 10.1007/s00439-024-02691-0. Epub 2024 Aug 1. Hum Genet. 2024. PMID: 39085601 Free PMC article.
A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.
Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW. Lincoln SE, et al. Among authors: kobayashi y. J Mol Diagn. 2015 Sep;17(5):533-44. doi: 10.1016/j.jmoldx.2015.04.009. Epub 2015 Jul 22. J Mol Diagn. 2015. PMID: 26207792 Free article.
10,557 results
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