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SNPs in human miRNA genes affect biogenesis and function

RNA (Cambridge), 2009-09, Vol.15 (9), p.1640-1651

2009

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Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations

Journal of clinical oncology, 2009-03, Vol.27 (8), p.1250-1256

2009

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Evidence for X-chromosomal schizophrenia associated with microRNA alterations

PloS one, 2009-07, Vol.4 (7), p.e6121-e6121

2009

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Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer

PloS one, 2009-09, Vol.4 (9), p.e7220-e7220

2009

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Evidence for mutation showers

Proceedings of the National Academy of Sciences - PNAS, 2007-05, Vol.104 (20), p.8403-8408

2007

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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events

PloS one, 2008-11, Vol.3 (11), p.e3714

2008

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Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

Human mutation, 2005-10, Vol.26 (4), p.303-307

2005

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mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

Proceedings of the National Academy of Sciences - PNAS, 2007-09, Vol.104 (39), p.15394-15399

2007

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Three ways of combining genotyping and resequencing in case-control association studies

PloS one, 2010-12, Vol.5 (12), p.e14318-e14318

2010

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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Human mutation, 2005-02, Vol.25 (2), p.177-188

2005

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Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans

Drug metabolism and disposition, 2003-02, Vol.31 (2), p.187-193

2003

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High frequency of neurexin 1β signal peptide structural variants in patients with autism

Neuroscience letters, 2006-11, Vol.409 (1), p.10-13

2006

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Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): measurement of mutation load in mammalian tissues

BioTechniques, 2004-01, Vol.36 (1), p.156-166

2004

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Pyrophosphorolysis-Activated Polymerization (PAP): Application to Allele-Specific Amplification

BioTechniques, 2000-11, Vol.29 (5), p.1072-1083

2000

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Neurexin 1α structural variants associated with autism

Neuroscience letters, 2008-06, Vol.438 (3), p.368-370

2008

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Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue-specific time courses of mutation frequency but similar mutation types

Environmental and molecular mutagenesis, 2004, Vol.43 (2), p.110-120

2004

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Multiplex dosage pyrophosphorolysis-activated polymerization: application to the detection of heterozygous deletions

BioTechniques, 2006-05, Vol.40 (5), p.661-668

2006

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Subcycling-PCR for Multiplex Long-Distance Amplification of Regions with High and Low GC Content: Application to the Inversion Hotspot in the Factor VIII Gene

BioTechniques, 1998-12, Vol.25 (6), p.1022-1028

1998

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Assessment of multiple displacement amplification in molecular epidemiology

BioTechniques, 2004-07, Vol.37 (1), p.136-143

2004

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Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia

Biochemical and biophysical research communications, 2008-03, Vol.367 (3), p.700-706

2008

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SSCP analysis of long DNA fragments in low pH gel

Human mutation, 1997, Vol.10 (5), p.400-407

1997

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Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification

Human mutation, 2007-02, Vol.28 (2), p.131-136

2007

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Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice

Environmental and molecular mutagenesis, 2005, Vol.45 (5), p.442-454

2005

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Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions

BioTechniques, 2004-09, Vol.37 (3), p.360-364

2004

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Toward Efficient Analysis of Mutations in Single Cells from Ethanol-Fixed, Paraffin-Embedded, and Immunohistochemically Stained Tissues

Laboratory investigation, 2002-04, Vol.82 (4), p.443-453

2002

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SNPs in human miRNA genes affect biogenesis and function

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations

Evidence for X-chromosomal schizophrenia associated with microRNA alterations

Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer

Evidence for mutation showers

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

Three ways of combining genotyping and resequencing in case-control association studies

Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans

High frequency of neurexin 1β signal peptide structural variants in patients with autism

Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): measurement of mutation load in mammalian tissues

Pyrophosphorolysis-Activated Polymerization (PAP): Application to Allele-Specific Amplification

Neurexin 1α structural variants associated with autism

Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue-specific time courses of mutation frequency but similar mutation types

Multiplex dosage pyrophosphorolysis-activated polymerization: application to the detection of heterozygous deletions

Subcycling-PCR for Multiplex Long-Distance Amplification of Regions with High and Low GC Content: Application to the Inversion Hotspot in the Factor VIII Gene

Assessment of multiple displacement amplification in molecular epidemiology

Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia

SSCP analysis of long DNA fragments in low pH gel

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification

Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice

Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions

Toward Efficient Analysis of Mutations in Single Cells from Ethanol-Fixed, Paraffin-Embedded, and Immunohistochemically Stained Tissues

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