Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material)
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Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
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Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) (update of Shaffer et al. 2001)
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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
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Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
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Addendum: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
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Clarifications to ACMG’s recent statement: The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
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Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
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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)
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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
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Developing a Value Framework for Genetic Diagnosis: Part I A Systematic Review of Outcomes Hierarchies and Measurement Approaches
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Care of adults with neurofibromatosis Type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
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Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
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A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment (see Bashford et al. 2019 for addendum)
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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (French, includes supplemental material)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (includes supplemental material)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Portuguese, includes supplemental material)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian, includes supplemental material)
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ACMG position statement on prenatal/preconception expanded carrier screening
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ACMG statement on noninvasive prenatal screening for fetal aneuploidy
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Clinical genetics evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions
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Technical report: ethical and policy issues in genetic testing and screening of children
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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (see Bashford et al. 2020 for addendum)
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Evaluation of the adolescent or adult with some features of Marfan syndrome
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Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors (see Goldman et al. 2019 for addendum)
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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities (see Manning and Hudgins 2020 for addendum)
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Screening for fetal aneuploidy and neural tube defects
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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
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Statement on guidance for genetic counseling in advanced paternal age
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Genetic evaluation of suspected osteogenesis imperfecta (OI)
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Pompe disease diagnosis and management guideline
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Newborn screening: toward a uniform screening panel and system (main report)
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Preconception and prenatal testing of biologic fathers for carrier status
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Fragile X syndrome: Diagnostic and carrier testing (see Monaghan et al. 2013 for update)
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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation (retired)
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