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ACMG

National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Review
2016
Review
2016
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Review
2015
Review
2015
Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling
The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013… 
2014
2014
THE CONTEXT OF SUCCESSFUL NAVIGATION OF GENDERED NORMS IN OUTDOOR ADVENTURE RECREATION: THE CASE OF PROFESSIONAL FEMALE ADVENTURE ATHLETES
  • 2014
  • Corpus ID: 126677357
2013
2013
Next-generation sequencing for clinical diagnostics.
Yang et al.1 report in the Journal the results of using whole-exome sequencing to make a molecular diagnosis in 62 of 250 cases… 
Highly Cited
2013
Highly Cited
2013
Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing.
2013
2013
Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency.
2013
2013
Incidental Swimming with Millstones
The medical genomics community needs carefully considered guidelines for the reporting of incidental findings. 
2013
2013
Deployment of a Fully-Automated Green Fluorescent Protein Imaging System in a High Arctic Autonomous Greenhouse
Higher plants are an integral part of strategies for sustained human presence in space. Space-based greenhouses have the… 
2005
2005
A new poly-Si TG-TFT with diminished pseudosubthreshold region: theoretical investigation and analysis
In this paper, we have proposed a new poly-Si triple-gate thin-film transistor (TG-TFT) where the front gate consists of two… 
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