American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Lora Bean;  ; Pinar Bayrak-Toydemir

doi:10.1038/gim.2014.146

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Genetics in Medicine ◽

10.1038/gim.2014.146 ◽

2014 ◽

Vol 16 (12) ◽

pp. e2-e2 ◽

Cited By ~ 21

Author(s):

Lora Bean ◽

◽

Pinar Bayrak-Toydemir

Keyword(s):

Huntington Disease ◽

Medical Genetics ◽

Clinical Genetics ◽

Technical Standards ◽

Standards And Guidelines ◽

Genetics And Genomics

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Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Genetics in Medicine ◽

10.1038/s41436-020-0893-3 ◽

2020 ◽

Author(s):

Lora Bean ◽

◽

Pinar Bayrak-Toydemir

Keyword(s):

Huntington Disease ◽

Medical Genetics ◽

Clinical Genetics ◽

Technical Standards ◽

Standards And Guidelines ◽

Genetics And Genomics

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American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

Genetics in Medicine ◽

10.1038/gim.2013.49 ◽

2013 ◽

Vol 15 (6) ◽

pp. 484-494 ◽

Cited By ~ 37

Author(s):

Keyword(s):

Microarray Analysis ◽

Medical Genetics ◽

Chromosome Abnormalities ◽

Technical Standards ◽

Standards And Guidelines ◽

Genetics And Genomics ◽

Neoplastic Disorders

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Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories*

Genetics in Medicine ◽

10.1097/01.gim.0000167808.96439.f3 ◽

2005 ◽

Vol 7 (5) ◽

pp. 344-354 ◽

Cited By ~ 10

Author(s):

Glenn E Palomaki ◽

Linda A Bradley ◽

Geraldine A McDowell

Keyword(s):

Down Syndrome ◽

Neural Tube ◽

Neural Tube Defects ◽

Prenatal Screening ◽

Medical Genetics ◽

Clinical Genetics ◽

Technical Standards ◽

Standards And Guidelines

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Faculty Opinions recommendation of ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.720830237.793515868 ◽

2016 ◽

Author(s):

Pietro Chiurazzi

Keyword(s):

Fragile X ◽

Medical Genetics ◽

Clinical Genetics ◽

Standards And Guidelines ◽

Genetics And Genomics ◽

Disease Specific

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Technical standards and guidelines: Prenatal screening for open neural tube defects: This new section on “Prenatal Screening for Open Neural Tube Defects,” together with the new section on “Prenatal Screening for Down Syndrome,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories*

Genetics in Medicine ◽

10.1097/00125817-200505000-00010 ◽

2005 ◽

Vol 7 (5) ◽

pp. 355-369 ◽

Cited By ~ 16

Author(s):

Linda A Bradley ◽

Glenn E Palomaki ◽

Geraldine A McDowell

Keyword(s):

Down Syndrome ◽

Neural Tube ◽

Neural Tube Defects ◽

Prenatal Screening ◽

Medical Genetics ◽

Clinical Genetics ◽

Technical Standards ◽

Standards And Guidelines

Download Full-text

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Genetics in Medicine ◽

10.1038/gim.2013.61 ◽

2013 ◽

Vol 15 (7) ◽

pp. 575-586 ◽

Cited By ~ 86

Author(s):

Kristin G. Monaghan ◽

Elaine Lyon ◽

Elaine B. Spector

Keyword(s):

Fragile X ◽

Medical Genetics ◽

Clinical Genetics ◽

Standards And Guidelines ◽

Genetics And Genomics ◽

Disease Specific

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Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Genetics in Medicine ◽

10.1097/00125817-200105000-00010 ◽

2001 ◽

Vol 3 (3) ◽

pp. 200-205 ◽

Cited By ~ 163

Author(s):

Anne Maddalena ◽

Carolyn Sue Richards ◽

Matthew J McGinniss ◽

Arthur Brothman ◽

Robert J Desnick ◽

...

Keyword(s):

Fragile X ◽

Medical Genetics ◽

Clinical Genetics ◽

Technical Standards ◽

Standards And Guidelines ◽

Disease Specific

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Faculty Opinions recommendation of Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725378375.793543190 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Molecular Pathology ◽

Medical Genetics ◽

Sequence Variants ◽

Consensus Recommendation ◽

Standards And Guidelines ◽

Genetics And Genomics

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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Genetics in Medicine ◽

10.1038/gim.2012.169 ◽

2013 ◽

Vol 15 (2) ◽

pp. 150-152 ◽

Cited By ~ 50

Author(s):

Catherine W. Rehder ◽

Karen L. David ◽

Betsy Hirsch ◽

Helga V. Toriello ◽

Carolyn M. Wilson ◽

...

Keyword(s):

Incidental Finding ◽

Medical Genetics ◽

Genomic Testing ◽

Standards And Guidelines ◽

Genetics And Genomics

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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine ◽

10.1038/s41436-019-0686-8 ◽

2019 ◽

Vol 22 (2) ◽

pp. 245-257 ◽

Cited By ~ 63

Author(s):

Erin Rooney Riggs ◽

Erica F. Andersen ◽

Athena M. Cherry ◽

Sibel Kantarci ◽

Hutton Kearney ◽

...

Keyword(s):

Copy Number ◽

Copy Number Variants ◽

Medical Genetics ◽

Consensus Recommendation ◽

Technical Standards ◽

Genetics And Genomics

Download Full-text