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Transcriptional regulatory elements in the human genome.
Maston GA, Evans SK, Green MR. Maston GA, et al. Annu Rev Genomics Hum Genet. 2006;7:29-59. doi: 10.1146/annurev.genom.7.080505.115623. Annu Rev Genomics Hum Genet. 2006. PMID: 16719718 Review.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: maston ga. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.