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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Genes, 2020-07, Vol.11 (8), p.853

2020

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Range instability leads to cytonuclear discordance in a morphologically cryptic ground squirrel species complex

Molecular ecology, 2017-09, Vol.26 (18), p.4743-4755

2017

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Whole Transcriptome Analysis of Pre-invasive and Invasive Early Squamous Lung Carcinoma in Archival Laser Microdissected Samples

Respiratory research, 2017-01, Vol.18 (1), p.12, Article 12

2017

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Transcriptomic Variation during Spermiogenesis in Mouse Germ Cells

PloS one, 2016-11, Vol.11 (11), p.e0164874-e0164874

2016

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Human mutation, 2016-02, Vol.37 (2), p.184-193

2016

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Splicing mutation of a gene within the Duchenne muscular dystrophy family

Genetics and molecular research, 2016-01, Vol.15 (2)

2016

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IVS8 ＋ 1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

Chinese medical journal, 2015-09, Vol.128 (18), p.2510-2515

2015

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Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

Leukemia, 2013-09, Vol.27 (9), p.1820-1825

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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Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele

Heredity, 2013-08, Vol.111 (2), p.122-130

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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Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain

BMC neuroscience, 2013-01, Vol.14 (1), p.5-5, Article 5

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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Microarray-based capture of novel expressed cell type-specific transfrags (CoNECT) to annotate tissue-specific transcription in Drosophila melanogaster

G3 : genes - genomes - genetics, 2012-08, Vol.2 (8), p.873-882

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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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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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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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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Mutation and expression of the p53 gene during chemical hepatocarcinogenesis in F344 rats

Biochimica et biophysica acta. Gene structure and expression, 2003-07, Vol.1628 (1), p.40-49

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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Generalized Resistance to Thyroid Hormone Associated with a Mutation in the Ligand-Binding Domain of the Human Thyroid Hormone Receptor β

Proceedings of the National Academy of Sciences - PNAS, 1989-11, Vol.86 (22), p.8977-8981

1989

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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Range instability leads to cytonuclear discordance in a morphologically cryptic ground squirrel species complex

Whole Transcriptome Analysis of Pre-invasive and Invasive Early Squamous Lung Carcinoma in Archival Laser Microdissected Samples

Transcriptomic Variation during Spermiogenesis in Mouse Germ Cells

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Splicing mutation of a gene within the Duchenne muscular dystrophy family

IVS8 ＋ 1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

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

Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele

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

Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain

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

Microarray-based capture of novel expressed cell type-specific transfrags (CoNECT) to annotate tissue-specific transcription in Drosophila melanogaster

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

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

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

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

Mutation and expression of the p53 gene during chemical hepatocarcinogenesis in F344 rats

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

Generalized Resistance to Thyroid Hormone Associated with a Mutation in the Ligand-Binding Domain of the Human Thyroid Hormone Receptor β

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