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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Schmidt JL, et al. Among authors: blanco k. Am J Med Genet A. 2020 Aug;182(8):1906-1912. doi: 10.1002/ajmg.a.61641. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573057
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Gonzalez L, Vockley G, Tang S. Powis Z, et al. Among authors: blanco k. Genet Med. 2018 Nov;20(11):1468-1471. doi: 10.1038/gim.2018.11. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565416 Free article.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Smith ED, Blanco K, Sajan SA, Hunter JM, Shinde DN, Wayburn B, Rossi M, Huang J, Stevens CA, Muss C, Alcaraz W, Hagman KDF, Tang S, Radtke K. Smith ED, et al. Among authors: blanco k. Genet Med. 2019 Oct;21(10):2199-2207. doi: 10.1038/s41436-019-0477-2. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894705 Free PMC article. Review.
When moments matter: Finding answers with rapid exome sequencing.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. Powis Z, et al. Among authors: blanco k. Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24. Mol Genet Genomic Med. 2020. PMID: 31872981 Free PMC article.
Quality of Clinician-Reported Cancer History When Ordering Genetic Testing.
LaDuca H, McFarland R, Gutierrez S, Yussuf A, Ho N, Pepper J, Reineke P, Cain T, Blanco K, Horton C, Dolinsky JS. LaDuca H, et al. Among authors: blanco k. JCO Clin Cancer Inform. 2018 Dec;2:1-11. doi: 10.1200/CCI.18.00014. JCO Clin Cancer Inform. 2018. PMID: 30652589 Free article.
70 results