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… (More)

Topic mentions per year

Topic mentions per year

1945-2018
05010015019452017

Papers overview

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Highly Cited
2014
Highly Cited
2014
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large… (More)
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Highly Cited
2014
Highly Cited
2014
Spontaneously arising (de novo) mutations have an important role in medical genetics. For diseases with extensive locus… (More)
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Highly Cited
2013
Highly Cited
2013
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown… (More)
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Highly Cited
2013
Highly Cited
2013
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically… (More)
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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… (More)
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Highly Cited
2012
Highly Cited
2012
Mutations generate sequence diversity and provide a substrate for selection. The rate of de novomutations is therefore of major… (More)
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Highly Cited
2012
Highly Cited
2012
Meiotic recombination and de novo mutation are the two main contributions toward gamete genome diversity, and many questions… (More)
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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… (More)
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Highly Cited
2010
Highly Cited
2010
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital… (More)
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Highly Cited
1999
Highly Cited
1999
In humans, deletion of any one of three Y-chromosomal regions—AZFa, AZFb or AZFc—disrupts spermatogenesis, causing infertility in… (More)
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