Sepiapterin approved for children and adults with phenylketonuria (PKU): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Sepiapterin-therapeutics-bulletin
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Mavorixafor (Xolremdi) for individuals with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Mavorixafor-WHIM-Syndrome-2
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Kebilidi (eladocagene exuparvovec-tneq) for adults and children with aromatic L-amino acid decarboxylase (AADC) deficiency: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Eladocagene-AADC-Deficiency
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Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Detection-Repeat-Expansions
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Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
VUS-Germline-Genetic-Testing-r
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Points to consider for the next-generation sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG)
NGS-Detection-CNAs-Neoplasia
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Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material)
Inherited-Cancer-Risk-Continuum-3-26-26
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Arimoclomol and levacetylleucine for treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Niemann-Pick-Disease-Bulletin
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ACMG Guidance Management of RAD51C RAD51D and BRIP1 Heterozygotes
ACMG-Guidance-Management-of-RAD51C-RAD51D-and-BRIP1-Heterozygotes-Press-Release.T.11.7.FINAL
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The ACMG Establishes Newborn Screening Coalition to Continue National Leadership in Advancing Evidence-Based Newborn Screening
ACMG-Establishes-Newborn-Screening-Coalition.T.10.09.25
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