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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. 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.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Watson MS, et al. Among authors: palomaki ge. Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c. Genet Med. 2004. PMID: 15371902 Free PMC article. No abstract available.
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
Lambert-Messerlian G, Kloza EM, Williams J 3rd, Loucky J, O'Brien B, Wilkins-Haug L, Mahoney MJ, De Biasio P, Borrell A, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. Lambert-Messerlian G, et al. Among authors: palomaki ge. Genet Med. 2014 May;16(5):419-22. doi: 10.1038/gim.2013.149. Epub 2013 Oct 3. Genet Med. 2014. PMID: 24091801 Free article.
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
Feldman GL, Schrijver I, Lyon E, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Feldman GL, et al. Among authors: palomaki ge. Genet Med. 2014 Sep;16(9):695-702. doi: 10.1038/gim.2014.14. Epub 2014 Feb 27. Genet Med. 2014. PMID: 24577267 Free article.
331 results