Medical Genetics specialty

Known as: Genetics, Medical, genetics medical, Medical genetics 
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1947-2018
05019472017

Papers overview

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Highly Cited
2015
Highly Cited
2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory… (More)
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Highly Cited
2014
Highly Cited
2014
Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible… (More)
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Highly Cited
2011
Highly Cited
2011
Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics… (More)
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Highly Cited
2009
Highly Cited
2009
Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical… (More)
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Highly Cited
2008
Highly Cited
2008
Markers on the non-recombining portion of the human Y chromosome continue to have applications in many fields including… (More)
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Highly Cited
2005
Highly Cited
2005
The exploration of quantitative variation in human populations has become one of the major priorities for medical genetics. The… (More)
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Highly Cited
2002
Highly Cited
2002
The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now… (More)
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Highly Cited
2001
Highly Cited
2001
Single nucleotide polymorphisms (SNPs) constitute the bulk of human genetic variation, occurring with an average density of… (More)
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Highly Cited
2001
Highly Cited
2001
Historically, association tests have been used extensively in medical genetics, but have had virtually no application in plant… (More)
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Highly Cited
2000
Highly Cited
2000
Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing… (More)
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