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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net. Hanson H, et al. Among authors: klugman s. Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25. Genet Med. 2023. PMID: 37490054
Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Agnese D, Daly M, La Spada A, Litton J, Wick M, Klugman S, Esplin ED, Jarvik GP; Professional Practice and Guidelines Committee. Pal T, et al. Among authors: klugman s. Genet Med. 2020 Apr;22(4):681-685. doi: 10.1038/s41436-019-0712-x. Epub 2019 Dec 13. Genet Med. 2020. PMID: 31831881 Free article. No abstract available.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Gregg AR, et al. Among authors: klugman s. Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20. Genet Med. 2021. PMID: 34285390 Free PMC article.
Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Gregg AR, et al. Among authors: klugman s. Genet Med. 2021 Oct;23(10):2015. doi: 10.1038/s41436-021-01300-z. Genet Med. 2021. PMID: 34453133 Free PMC article. No abstract available.
81 results