ACMG

 
National Institutes of Health

Papers overview

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Review
2017
Review
2017
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published… (More)
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Highly Cited
2017
Highly Cited
2017
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare… (More)
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Review
2016
Review
2016
To the Editor: The joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the… (More)
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Highly Cited
2015
Highly Cited
2015
5March2015 The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of… (More)
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Highly Cited
2013
Highly Cited
2013
Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid… (More)
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Highly Cited
2013
Highly Cited
2013
Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal… (More)
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Highly Cited
2013
Highly Cited
2013
For years, clinicians have offered gene-by-gene carrier screening to patients and couples considering future pregnancy or those… (More)
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Highly Cited
2013
Highly Cited
2013
Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism–detecting arrays… (More)
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Highly Cited
2008
Highly Cited
2008
ACMG previously developed recommendations for standards for interpretation of sequence variations. We now present the updated… (More)
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Highly Cited
2008
Highly Cited
2008
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the… (More)
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