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)
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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)
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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)
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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)
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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)
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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)
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Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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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)
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Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material)
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Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (includes Correction)
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Addendum: Statement on informed consent for medical photographs
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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies (includes supplemental material)
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Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
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Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
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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) (includes supplemental material)
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
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Management of individuals with germline variants in PALB2: a clinical 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 consensus statement on factor V Leiden mutation testing
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Focused Revision: ACMG practice resource: Genetic evaluation of short stature
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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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Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
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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
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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 (includes supplemental material)
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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 (German, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (German)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Portuguese, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Portuguese)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Spanish, includes supplemental material)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish, 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)
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
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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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ACMG practice guideline: Genetic evaluation of short stature (see Mintz et al. 2021 for addendum)
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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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Carrier screening in individuals of Ashkenazi Jewish descent (retired)
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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 (retired)
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Fragile X syndrome: Diagnostic and carrier testing (update of Park et al. 1994)
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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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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel (see Deignan et al. 2020 for update)
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American College of Medical Genetics statement on diagnostic testing for uniparental disomy (see Del Gaudio et al. 2020 for update)
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American College of Medical Genetics consensus statement on factor V Leiden mutation testing
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