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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 2
1985 1
1986 6
1987 5
1988 4
1989 7
1990 2
1991 3
1992 7
1993 6
1994 13
1995 4
1996 4
1997 7
1998 8
1999 4
2000 6
2001 5
2002 6
2003 1
2004 1
2006 2
2008 3
2009 4
2010 2
2012 2
2013 4
2014 1
2015 1
2016 2
2017 2
2018 1
2021 3
2024 0

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125 results

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Page 1
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Miller DT, et al. Among authors: bale sj. Genet Med. 2021 Aug;23(8):1381-1390. doi: 10.1038/s41436-021-01172-3. Epub 2021 May 20. Genet Med. 2021. PMID: 34012068 Free article. No abstract available.
ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. Rehm HL, et al. Among authors: bale sj. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25. Genet Med. 2013. PMID: 23887774 Free PMC article.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Miller DT, et al. Among authors: bale sj. Genet Med. 2021 Aug;23(8):1391-1398. doi: 10.1038/s41436-021-01171-4. Epub 2021 May 20. Genet Med. 2021. PMID: 34012069 Free article. No abstract available.
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Palmer CN, et al. Among authors: bale sj. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
Genetics of melanoma.
Fountain JW, Bale SJ, Housman DE, Dracopoli NC. Fountain JW, et al. Among authors: bale sj. Cancer Surv. 1990;9(4):645-71. Cancer Surv. 1990. PMID: 2101727 Review.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Kalia SS, et al. Among authors: bale sj. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Genet Med. 2017. PMID: 27854360 Free article.
Epidermolytic hyperkeratosis.
Bale SJ, Compton JG, DiGiovanna JJ. Bale SJ, et al. Semin Dermatol. 1993 Sep;12(3):202-9. Semin Dermatol. 1993. PMID: 7692917 Review.
Epidermolytic hyperkeratosis: applied molecular genetics.
DiGiovanna JJ, Bale SJ. DiGiovanna JJ, et al. Among authors: bale sj. J Invest Dermatol. 1994 Mar;102(3):390-4. doi: 10.1111/1523-1747.ep12371801. J Invest Dermatol. 1994. PMID: 7509838 Free article. Review.
125 results