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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. 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.
Acne following Blaschko's lines in Proteus syndrome.
Cartron AM, Pithadia DJ, Buser A, Biesecker LG, Darling TN. Cartron AM, et al. JAAD Case Rep. 2020 Aug 20;6(10):1072-1074. doi: 10.1016/j.jdcr.2020.08.015. eCollection 2020 Oct. JAAD Case Rep. 2020. PMID: 33005710 Free PMC article. No abstract available.
A six-attribute classification of genetic mosaicism.
Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P. Martínez-Glez V, et al. Genet Med. 2020 Nov;22(11):1743-1757. doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14. Genet Med. 2020. PMID: 32661356 Free PMC article. Review.
13 results