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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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: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
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Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
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)
Diagnostic testing for uniparental disomy: a points to consider statement from the American College
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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Systematic evidence-based review outcomes from exome and genome sequencing for pediatric patients wi
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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
ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the Ame
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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)
Clarifications to ACMG’s recent statement: The use of ACMG secondary findings recommendations
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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)
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental
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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetic Evaluation of cardiomyopathy: a clinical practice resource of the American College of Medica
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Developing a Value Framework for Genetic Diagnosis: Part I A Systematic Review of Outcomes Hierarchies and Measurement Approaches
Developing a Value Framework for Genetic Diagnosis: Part I A Systematic Review of Outcomes Hierarchi
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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)
Care of Adults with Neurofibromatosis Type 1: a clinical practice resource of the American College o
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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)
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversa
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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)
A Practice Guideline from the American College of Medical Genetics and Genomics and the National Soc
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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
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American Co
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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologi
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (French, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (French)
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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 (includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
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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 (Italian, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Italian)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Spanish, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Spanish)
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish, includes supplemental material)
Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish)
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ACMG position statement on prenatal/preconception expanded carrier screening
ACMG position statement on prenatal/ preconception expanded carrier screening
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ACMG statement on noninvasive prenatal screening for fetal aneuploidy
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
Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guide
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Technical report: ethical and policy issues in genetic testing and screening of children
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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Evaluation of the adolescent or adult with some features of Marfan syndrome
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)
Genetic Counseling and Testing for Alzheimer Disease Joint Practice Guidelines of the American Colle
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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)
Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detectio
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Screening for fetal aneuploidy and neural tube defects
Screening for fetal aneuploidy and neural tube defects
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ACMG practice guideline: Genetic evaluation of short stature (see Mintz et al. 2021 for addendum)
ACMG Practice Guideline: Genetic Evaluation of Short Stature
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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
Diagnostic Criteria and Tumor Screening for Individuals with Isolated Hemihyperplasia
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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
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Carrier screening for spinal muscular atrophy (retired)
Carrier Screening for Spinal Muscular Atrophy
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Statement on guidance for genetic counseling in advanced paternal age
Statement on Guidance for Genetic Counseling in Advanced Paternal Age
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Carrier screening in individuals of Ashkenazi Jewish descent (retired)
Carrier Screening in Individuals of Ashkenazi Jewish Descent
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Genetic evaluation of suspected osteogenesis imperfecta (OI)
Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI)
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Pompe disease diagnosis and management guideline
Pompe Disease Diagnosis and Management Guideline
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Newborn screening: toward a uniform screening panel and system (main report)
Newborn Screening: Toward a Uniform Screening Panel and System
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Preconception and prenatal testing of biologic fathers for carrier status (retired)
Preconception and prenatal testing of biologic fathers for carrier status
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Fragile X syndrome: Diagnostic and carrier testing (update of Park et al. 1994)
Fragile X Syndrome: Diagnostic and Carrier Testing
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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation (retired)
American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Ind
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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)
Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics
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American College of Medical Genetics statement on diagnostic testing for uniparental disomy (see Del Gaudio et al. 2020 for update)
American College of Medical Genetics and Genomics Statement on Diagnostic Testing for Uniparental Di
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American College of Medical Genetics consensus statement on factor V Leiden mutation testing
American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Te
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