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Determination of EGFR mutations in single cells microdissected from enriched lung tumor cells in peripheral blood

Analytical and bioanalytical chemistry, 2013-09, Vol.405 (23), p.7377-7382

2013

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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

Journal of the neurological sciences, 2013-08, Vol.331 (1), p.158-160

2013

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Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma

Journal of cutaneous pathology, 2013-07, Vol.40 (7), p.623-630

2013

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SMARCB1 protein and mRNA loss is not caused by promoter and histone hypermethylation in epithelioid sarcoma

Modern pathology, 2013-03, Vol.26 (3), p.393-403

2013

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Examination of CD26/DPPIV, p53, and PTEN expression in thyroid follicular adenoma

Diagnostic cytopathology, 2012-12, Vol.40 (12), p.1047-1053

2012

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

BMC medical genomics, 2012-11, Vol.5 (1), p.50-50, Article 50

2012

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Transcriptome-based exon capture enables highly cost-effective comparative genomic data collection at moderate evolutionary scales

BMC genomics, 2012-08, Vol.13 (1), p.403-403

2012

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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.58-63

2012

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High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer

Science China. Life sciences, 2011-10, Vol.54 (10), p.945-952

2011

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1074-1081

2011

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High-quality DNA sequence capture of 524 disease candidate genes

Proceedings of the National Academy of Sciences - PNAS, 2011-04, Vol.108 (16), p.6549-6554

2011

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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

Genetics in medicine, 2011-03, Vol.13 (3), p.218-229

2011

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In silico analysis of the exome for gene discovery

Methods in molecular biology (Clifton, N.J.), 2011, Vol.760, p.109

2011

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Whole human exome capture for high-throughput sequencing

Genome, 2010-07, Vol.53 (7), p.568-574

2010

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Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

Genomics (San Diego, Calif.), 2010-04, Vol.95 (4), p.241-246

2010

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Analysis of p53 mutations in histologically normal lung tissues and lung tumors from non-small cell lung cancer patients

Molecular carcinogenesis, 2009-07, Vol.48 (7), p.633-641

2009

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Somatic Mosaicism of Androgen Receptor CAG Repeats in Colorectal Carcinoma Epithelial Cells From Men

The Journal of surgical research, 2009-06, Vol.154 (1), p.38-44

2009

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Somatic Mutations in SQSTM1 Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

Journal of bone and mineral research, 2009-03, Vol.24 (3), p.484-494

2009

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Methods for genomic partitioning

Annual review of genomics and human genetics, 2009-01, Vol.10 (1), p.263-284

2009

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Accumulation of p53 protein in pterygia is not accompanied by TP53 gene mutation

Experimental eye research, 2006, Vol.82 (1), p.91-98

2006

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p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

Prostate cancer and prostatic diseases, 2003-12, Vol.6 (4), p.281-285

2003

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Molecular analysis of gene expression in tumor pathology

Advances in experimental medicine and biology, 2003, Vol.532, p.19

2003

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Analysis of Fas Gene Mutations on Laser Capture Microdissected Specimens from Renal Cell Carcinoma

Cancer science, 2002-11, Vol.93 (11), p.1201-1206

2002

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Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Cancer science, 2002-07, Vol.93 (7), p.798-806

2002

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Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

Experimental and molecular pathology, 2001-06, Vol.70 (3), p.195-200

2001

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Determination of EGFR mutations in single cells microdissected from enriched lung tumor cells in peripheral blood

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma

SMARCB1 protein and mRNA loss is not caused by promoter and histone hypermethylation in epithelioid sarcoma

Examination of CD26/DPPIV, p53, and PTEN expression in thyroid follicular adenoma

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Transcriptome-based exon capture enables highly cost-effective comparative genomic data collection at moderate evolutionary scales

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

High-quality DNA sequence capture of 524 disease candidate genes

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

In silico analysis of the exome for gene discovery

Whole human exome capture for high-throughput sequencing

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

Analysis of p53 mutations in histologically normal lung tissues and lung tumors from non-small cell lung cancer patients

Somatic Mosaicism of Androgen Receptor CAG Repeats in Colorectal Carcinoma Epithelial Cells From Men

Somatic Mutations in SQSTM1 Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

Methods for genomic partitioning

Accumulation of p53 protein in pterygia is not accompanied by TP53 gene mutation

p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein

Molecular analysis of gene expression in tumor pathology

Analysis of Fas Gene Mutations on Laser Capture Microdissected Specimens from Renal Cell Carcinoma

Allelotype Analysis of Common Epithelial Ovarian Cancers with Special Reference to Comparison between Clear Cell Adenocarcinoma with Other Histological Types

Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP

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