Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1989-2017
0204019892017

Papers overview

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Highly Cited
2011
Highly Cited
2011
Human induced pluripotent stem cells (iPSCs) bearing monogenic mutations have great potential for modeling disease phenotypes… (More)
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Highly Cited
2006
Highly Cited
2006
The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent areas participate in speech processing… (More)
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Highly Cited
2006
Highly Cited
2006
BACKGROUND TTN-encoded titin, CSRP3-encoded muscle LIM protein, and TCAP-encoded telethonin are Z-disc proteins essential for the… (More)
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Highly Cited
2003
Highly Cited
2003
The increase in genome scanning data, derived from clinical genetics practice, is producing a wealth of information on human… (More)
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Highly Cited
2003
Highly Cited
2003
Defects in nine sarcomeric protein genes are known to cause hypertrophic cardiomyopathy (HCM). Mutation types and frequencies in… (More)
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Highly Cited
2002
Highly Cited
2002
SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French… (More)
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Highly Cited
2000
Highly Cited
2000
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is… (More)
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Highly Cited
1999
Highly Cited
1999
Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in… (More)
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Highly Cited
1997
Highly Cited
1997
BACKGROUND & AIMS We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an… (More)
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