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208 results

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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: richards cs. 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.
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Grody WW, et al. Among authors: richards cs. Genet Med. 2001 Mar-Apr;3(2):149-54. doi: 10.1097/00125817-200103000-00010. Genet Med. 2001. PMID: 11280952 Free article. No abstract available.
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Maddalena A, et al. Among authors: richards cs. Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.
Standards and guidelines for CFTR mutation testing.
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE. Richards CS, et al. Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010. Genet Med. 2002. PMID: 12394352 Free article.
Cystic fibrosis carrier screening: issues in implementation.
Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Watson MS, et al. Among authors: richards cs. Genet Med. 2002 Nov-Dec;4(6):407-9. doi: 10.1097/00125817-200211000-00001. Genet Med. 2002. PMID: 12509709 Free article. No abstract available.
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: richards cs. 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.
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Spector EB, et al. Among authors: richards cs. Genet Med. 2005 Jul-Aug;7(6):444-53. doi: 10.1097/01.gim.0000172641.57755.3a. Genet Med. 2005. PMID: 16024978
ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.
Monaghan KG, Benkendorf J, Cherry AM, Gross SJ, Richards CS, Sutton VR, Watson MS; Laboratory Quality Assurance Committee of the American College of Medical Genetics and Genomics; Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics. Monaghan KG, et al. Among authors: richards cs. Genet Med. 2013 Apr;15(4):314-5. doi: 10.1038/gim.2012.178. Epub 2013 Jan 24. Genet Med. 2013. PMID: 23348768 Free article. No abstract available.
208 results