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Year Number of Results
2009 1
2018 2
2019 1
2020 7
2021 7
2022 3
2023 1
2024 1
2025 1

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23 results

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Page 1
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. 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.
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Li MM, et al. Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10. Genet Med. 2022. PMID: 35802133 Free article.
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Bashford MT, Hickey SE, Curry CJ, Toriello HV; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee. Bashford MT, et al. Genet Med. 2020 Dec;22(12):2125. doi: 10.1038/s41436-020-0843-0. Epub 2020 Jun 12. Genet Med. 2020. PMID: 32533132 Free article. No abstract available.
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Schon KR, Astiazaran-Symonds E, Balmaña J, Foulkes WD, James P, Klugman S, Livinski AA, Mak JS, Ngeow J, Voian N, Wick MJ, Hanson H, Stewart DR, Tischkowitz M; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Pal T, et al. Genet Med. 2025 Jan;27(1):101243. doi: 10.1016/j.gim.2024.101243. Epub 2024 Dec 5. Genet Med. 2025. PMID: 39636577
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Waggoner D, et al. Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Genet Med. 2018. PMID: 29915380 Free PMC article. Review.
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. 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.
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee. Tischkowitz M, et al. Genet Med. 2021 Aug;23(8):1416-1423. doi: 10.1038/s41436-021-01151-8. Epub 2021 May 11. Genet Med. 2021. PMID: 33976419 Free article.
23 results