Highlights

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material)

Management-ATM

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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Phenylalanine-hydroxylase-deficiency-EBG

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Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Biomarker-testing-lysosomal-diseases

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The ACMG and ACMG Foundation Announce New 2025-2029 Strategic Plans

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Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)

Expert-Witness-Testimony-Points

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Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Trofinetide-approved-for-children-and-adults-with-Rett-syndrome-RTT

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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Myotonic-dystrophy-2024-revision

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Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Secondary-Findings-Penetrance-Policy

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Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Preconception-Prenatal-Carrier-Screening

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Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Velmanase-Alfa-Approved

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