Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Mapping Intimacies ◽

10.1016/c2017-0-01777-9 ◽

2022 ◽

Keyword(s):

Medical Genetics ◽

Genetics And Genomics

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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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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-021-01151-8 ◽

2021 ◽

Author(s):

Marc Tischkowitz ◽

◽

Judith Balmaña ◽

William D. Foulkes ◽

Paul James ◽

...

Keyword(s):

Clinical Practice ◽

Medical Genetics ◽

Germline Variants ◽

Genetics And Genomics

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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-021-01115-y ◽

2021 ◽

Author(s):

Elaine Spector ◽

◽

Andrea Behlmann ◽

Kathryn Kronquist ◽

Nancy C. Rose ◽

...

Keyword(s):

Laboratory Testing ◽

Fragile X ◽

Medical Genetics ◽

Technical Standard ◽

Genetics And Genomics

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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-020-01082-w ◽

2021 ◽

Author(s):

Michael F. Murray ◽

◽

Monica A. Giovanni ◽

Debra L. Doyle ◽

Steven M. Harrison ◽

...

Keyword(s):

Population Health ◽

Medical Genetics ◽

Genetics And Genomics

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Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

Genetics in Medicine ◽

10.1038/gim.2016.196 ◽

2017 ◽

Vol 19 (7) ◽

pp. 721-722 ◽

Author(s):

ACMG Board of Directors

Keyword(s):

Health Care ◽

Data Sharing ◽

Genomic Data ◽

Position Statement ◽

Medical Genetics ◽

Genetics And Genomics ◽

Clinical Genomic

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Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics

Genetics in Medicine ◽

10.1038/s41436-018-0059-8 ◽

2018 ◽

Vol 20 (11) ◽

pp. 1303-1304

Author(s):

Keyword(s):

Medical Genetics ◽

Policy Statement ◽

Patient Access ◽

Genetics And Genomics ◽

Access And Affordability

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Classifying and Reporting Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American College of Medical Genetics and Genomics (ACMG), and the Cancer Genomics Consortium (CGC)

Cancer Genetics ◽

10.1016/j.cancergen.2017.04.016 ◽

2017 ◽

Vol 214-215 ◽

pp. 36-37 ◽

Author(s):

Gordana Raca ◽

Jaclyn Biegel ◽

Linda Cooley ◽

Adrian Dubuc ◽

Betsy Hirsch ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Copy Number ◽

Cancer Genomics ◽

Neutral Loss ◽

Copy Number Variants ◽

Medical Genetics ◽

Genetics And Genomics ◽

Neoplastic Disorders

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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-018-0039-z ◽

2018 ◽

Vol 20 (9) ◽

pp. 899-909 ◽

Author(s):

Ray E. Hershberger ◽

◽

Michael M. Givertz ◽

Carolyn Y Ho ◽

Daniel P. Judge ◽

...

Keyword(s):

Clinical Practice ◽

Genetic Evaluation ◽

Medical Genetics ◽

Genetics And Genomics

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Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome

Circulation Genomic and Precision Medicine ◽

10.1161/circgen.117.002039 ◽

2018 ◽

Vol 11 (6) ◽

Author(s):

Laura Muiño-Mosquera ◽

Felke Steijns ◽

Tjorven Audenaert ◽

Ilse Meerschaut ◽

Anne De Paepe ◽

...

Keyword(s):

Marfan Syndrome ◽

Molecular Pathology ◽

Medical Genetics ◽

Fbn1 Gene ◽

Genetics And Genomics

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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)

Genetics in Medicine ◽

10.1038/s41436-018-0040-6 ◽

2018 ◽

Vol 20 (10) ◽

pp. 1105-1113 ◽

Author(s):

Darrel Waggoner ◽

◽

Karen E. Wain ◽

Adrian M. Dubuc ◽

Laura Conlin ◽

...

Keyword(s):

Clinical Practice ◽

Genetic Testing ◽

Congenital Anomalies ◽

Medical Genetics ◽

Chromosomal Microarray ◽

Neurodevelopmental Disability ◽

Genetics And Genomics

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