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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… 
National Institutes of Health

Related topics

Related topics

20 relations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVAU-KLINE SYNDROMEAtelosteogenesis, type 1Cleft palate, isolated

Papers overview

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Highly Cited
2016
Highly Cited
2016
New observations on maternal age effect on germline de novo mutations
Germline mutations are the source of evolution and contribute substantially to many health-related processes. Here we use whole… 
Highly Cited
2014
Highly Cited
2014
Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle.
BACKGROUND Plasma-derived cell-free tumor DNA (ctDNA) constitutes a potential surrogate for tumor DNA obtained from tissue… 
Highly Cited
2014
Highly Cited
2014
De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology. Recent studies of de novo mutations… 
Highly Cited
2014
Highly Cited
2014
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Highly Cited
2010
Highly Cited
2010
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental… 
Highly Cited
2009
Highly Cited
2009
De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies
Background: Mutations of voltage-gated sodium channel αII gene, SCN2A, have been described in a wide spectrum of epilepsies… 
Highly Cited
1995
Highly Cited
1995
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence… 
Highly Cited
1990
Highly Cited
1990
Genetic evidence equating SRY and the testis-determining factor
THE testis-determining factor gene (TDF) lies on the Y chromosome and is responsible for initiating male sex determination. SRY… 
Highly Cited
1981
Highly Cited
1981
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal… 
Highly Cited
1975
Highly Cited
1975
Conditional-lethal mutations that suppress genetic defects in morphogenesis by altering structural proteins.
An analysis of revertants of missense mutants in phage P22 has shown: (i) New temperature-sensitive (TS) and cold-sensitive (CS… 
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