2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Smith W, Berry S, Bloom K, Brown C, Burton B, Demarest O, Jenkins G, Malinowski J, McBride K, Mroczkowski H, Scharfe C, Vockley J, Board of Directors A. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 101289. PMID: 39630157, DOI: 10.1016/j.gim.2024.101289.Peer-Reviewed Original ResearchAmerican College of Medical Genetics and GenomicsRecent American College of Medical GeneticsPractice guidelinesEvidence-based clinical guidelinesEvidence-to-decision frameworkAmerican College of Medical GeneticsClinical practice guidelinesEvidence-based guidelinesPrevent pregnancy complicationsPhenylalanine hydroxylasePhenylalanine hydroxylase deficiencyIntellectual outcomeEvidence summaryStandard of careRecommendations AssessmentGuideline workgroupClinical guidelinesPregnancy complicationsSystematic reviewGenetic testingMedical geneticsAmerican CollegeConfirm diagnosisPractice recommendationsPAH variantsAddendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG)
Reddi H, Avenarius M, Bean L, Best H, Guha S, Kang B, Scharfe C, Seifert B, Wakeling E, Committee A. Addendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 26: 101100. DOI: 10.1016/j.gim.2024.101100.Peer-Reviewed Original Research
2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, PMCID: PMC11040261, DOI: 10.1016/j.gim.2023.100831.Peer-Reviewed Original Research