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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: stevens ca. 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.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: stevens ca. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
170 results