Best RG - Search Results

1

Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Palomaki GE, Ashwood ER, Best RG, Lambert-Messerlian G, Knight GJ. Palomaki GE, et al. Among authors: best rg. Genet Med. 2015 Nov;17(11):897-900. doi: 10.1038/gim.2015.39. Epub 2015 Apr 2. Genet Med. 2015. PMID: 25834952 Free article.

2

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.

Costakos D, Abramson RK, Edwards JG, Rizzo WB, Best RG. Costakos D, et al. Among authors: best rg. Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307. Am J Med Genet. 1991. PMID: 1789282

3

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. Gregg AR, et al. Among authors: best rg. Genet Med. 2013 May;15(5):395-8. doi: 10.1038/gim.2013.29. Epub 2013 Apr 4. Genet Med. 2013. PMID: 23558255 Free article.

4

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Richards CS, et al. Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23. Genet Med. 2014. PMID: 23703682 Free article.

5

Screening for down syndrome in the United States: results of surveys in 2011 and 2012.

Palomaki GE, Knight GJ, Ashwood ER, Best RG, Haddow JE. Palomaki GE, et al. Among authors: best rg. Arch Pathol Lab Med. 2013 Jul;137(7):921-6. doi: 10.5858/arpa.2012-0319-CP. Arch Pathol Lab Med. 2013. PMID: 23808464 Free article.

6

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS. Gregg AR, et al. Among authors: best rg. Genet Med. 2016 Oct;18(10):1056-65. doi: 10.1038/gim.2016.97. Epub 2016 Jul 28. Genet Med. 2016. PMID: 27467454 Free article.

7

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

Skotko BG, Allyse MA, Bajaj K, Best RG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg AR. Skotko BG, et al. Among authors: best rg. Genet Med. 2019 Oct;21(10):2285-2292. doi: 10.1038/s41436-019-0485-2. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940924 Free PMC article.

8

Response to Knoppers et al.

David KL, Best RG, Brenman LM, Bush L, Deignan J, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. David KL, et al. Among authors: best rg. Genet Med. 2019 Oct;21(10):2403. doi: 10.1038/s41436-019-0496-z. Epub 2019 Apr 11. Genet Med. 2019. PMID: 30971833 Free article. No abstract available.

9

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Palomaki GE, Bupp C, Gregg AR, Norton ME, Oglesbee D, Best RG; ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Palomaki GE, et al. Among authors: best rg. Genet Med. 2020 Mar;22(3):462-474. doi: 10.1038/s41436-019-0681-0. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700163 Free article.

10

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.

Palomaki GE, Wyatt P, Best RG, Lepage N, Ashwood ER, Souers RJ, Thorson JA. Palomaki GE, et al. Among authors: best rg. Genet Med. 2020 Apr;22(4):777-784. doi: 10.1038/s41436-019-0718-4. Epub 2020 Jan 13. Genet Med. 2020. PMID: 31929509 Free article.

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