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The novel non‐classical HLA‐G01:55 identified in a Chinese individual

HLA, 2024-08, Vol.104 (2), p.e15657-n/a

2024

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The novel non‐classical HLA‐F01:12 allele identified in a Brazilian individual

HLA, 2024-07, Vol.104 (1), p.e15611-n/a

2024

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The novel non‐classical HLA‐G01:46 identified in a Brazilian individual

HLA, 2024-07, Vol.104 (1), p.e15590-n/a

2024

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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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Gene promoter and exon DNA methylation changes in colon cancer development - mRNA expression and tumor mutation alterations

BMC cancer, 2018-06, Vol.18 (1), p.695-695, Article 695

2018

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Alternative transcription of a shorter, non-anti-angiogenic thrombospondin-2 variant in cancer-associated blood vessels

Oncogene, 2018-05, Vol.37 (19), p.2573-2585

2018

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A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood

Genetic testing and molecular biomarkers, 2017-07, Vol.21 (7), p.433-439

2017

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Variant call concordance between two laboratory-developed, solid tumor targeted genomic profiling assays using distinct workflows and sequencing instruments

Experimental and molecular pathology, 2017-04, Vol.102 (2), p.215-218

2017

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A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo

BMC genetics, 2017-03, Vol.18 (1), p.29, Article 29

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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Non-sequential and multi-step splicing of the dystrophin transcript

RNA biology, 2016-03, Vol.13 (3), p.290-305

2016

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A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Hearing research, 2016-03, Vol.333, p.179-184

2016

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Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53

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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Global gene expression in pseudomyxoma peritonei, with parallel development of two immortalized cell lines

Oncotarget, 2015-05, Vol.6 (13), p.10786-10800

2015

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KRAS Mutant Allele-Specific Imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer

Journal of clinical pathology, 2015-04, Vol.68 (4), p.265-269

2015

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Targeted exon sequencing in Usher syndrome type I

Investigative ophthalmology & visual science, 2014-12, Vol.55 (12), p.8488-8496

2014

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Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

RNA biology, 2014-11, Vol.11 (11), p.1430-1446

2014

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Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection

PloS one, 2014, Vol.9 (9), p.e106301

2014

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Detecting somatic genetic alterations in tumor specimens by exon capture and massively parallel sequencing

Journal of visualized experiments, 2013-10 (80), p.e50710-e50710

2013

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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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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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The novel non‐classical HLA‐G01:55 identified in a Chinese individual

The novel non‐classical HLA‐F01:12 allele identified in a Brazilian individual

The novel non‐classical HLA‐G01:46 identified in a Brazilian individual

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

Gene promoter and exon DNA methylation changes in colon cancer development - mRNA expression and tumor mutation alterations

Alternative transcription of a shorter, non-anti-angiogenic thrombospondin-2 variant in cancer-associated blood vessels

A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood

Variant call concordance between two laboratory-developed, solid tumor targeted genomic profiling assays using distinct workflows and sequencing instruments

A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo

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

Non-sequential and multi-step splicing of the dystrophin transcript

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

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

Global gene expression in pseudomyxoma peritonei, with parallel development of two immortalized cell lines

KRAS Mutant Allele-Specific Imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer

Targeted exon sequencing in Usher syndrome type I

Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection

Detecting somatic genetic alterations in tumor specimens by exon capture and massively parallel sequencing

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

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

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