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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: johnson b. 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.
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: johnson b. 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.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Lacassie Y, et al. Among authors: johnson b. Am J Med Genet A. 2020 Jul;182(7):1767-1775. doi: 10.1002/ajmg.a.61597. Epub 2020 Apr 16. Am J Med Genet A. 2020. PMID: 32297715
Prioritizing genes for systematic variant effect mapping.
Kuang D, Truty R, Weile J, Johnson B, Nykamp K, Araya C, Nussbaum RL, Roth FP. Kuang D, et al. Among authors: johnson b. Bioinformatics. 2021 Apr 1;36(22-23):5448-5455. doi: 10.1093/bioinformatics/btaa1008. Bioinformatics. 2021. PMID: 33300982 Free PMC article.
7,900 results