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De novo mutation

Known as: De novo mutations, new mutation 
An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the… Expand
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we… Expand
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Highly Cited
2013
Highly Cited
2013
  • 2013
  • Corpus ID: 1334452
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown… Expand
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Highly Cited
2012
Highly Cited
2012
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders… Expand
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Highly Cited
2012
Highly Cited
2012
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases… Expand
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Highly Cited
2012
Highly Cited
2012
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of… Expand
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Highly Cited
2012
Highly Cited
2012
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major… Expand
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Highly Cited
2011
Highly Cited
2011
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated… Expand
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Highly Cited
2010
Highly Cited
2010
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced… Expand
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Highly Cited
2008
Highly Cited
2008
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial and nonfamilial (sporadic) forms… Expand
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Highly Cited
2001
Highly Cited
2001
Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by… Expand
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