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Comparison of RNA-Sequencing Methods for Degraded RNA

International journal of molecular sciences, 2024-06, Vol.25 (11), p.6143

2024

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A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

BMC genomics, 2022-04, Vol.23 (1), p.303-303, Article 303

2022

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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

International journal of molecular sciences, 2022-09, Vol.23 (19), p.11175

2022

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Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex

The Journal of molecular diagnostics : JMD, 2021-04, Vol.23 (4), p.424-446

2021

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Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events

Scientific reports, 2022-06, Vol.12 (1), p.10599-10599, Article 10599

2022

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Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes

International journal of molecular sciences, 2021-12, Vol.22 (23), p.13060

2021

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Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem cell research, 2024-06, Vol.77, p.103388, Article 103388

2024

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Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing

International journal of molecular sciences, 2020-05, Vol.21 (10), p.3530

2020

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Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Frontiers in genetics, 2023-09, Vol.14, p.1256064-1256064

2023

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Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis

RNA biology, 2021-11, Vol.18 (11), p.1600-1607

2021

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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

Current issues in molecular biology, 2021-07, Vol.43 (2), p.782-801

2021

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Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)

Stem cell research, 2022-08, Vol.63, p.102867-102867, Article 102867

2022

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Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene

Stem cell research, 2022-10, Vol.64, p.102926-102926, Article 102926

2022

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Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene

Stem cell research, 2022-10, Vol.64, p.102885-102885, Article 102885

2022

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Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

Stem cell research, 2023-08, Vol.70, p.103129-103129, Article 103129

2023

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Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene

Stem cell research, 2023-06, Vol.69, p.103075-103075, Article 103075

2023

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A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes

Endocrine Journal, 2021, Vol.68(9), pp.1135-1141

2021

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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

Human genome variation, 2024-07, Vol.11 (1), p.28-4, Article 28

2024

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An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

Frontiers in immunology, 2023-10, Vol.14, p.1264609-1264609

2023

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Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)

Stem cell research, 2022-05, Vol.61, p.102743-102743, Article 102743

2022

Volltextzugriff (PDF)

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

Genes, 2023-11, Vol.14 (11), p.2079

2023

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Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

Stem cell research, 2022-08, Vol.63, p.102860-102860, Article 102860

2022

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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Human genome variation, 2023-11, Vol.10 (1), p.29-29, Article 29

2023

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Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

Biology (Basel, Switzerland), 2021-03, Vol.10 (4), p.256

2021

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Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants

Brain & development (Tokyo. 1979), 2020-02, Vol.42 (2), p.171-178

2020

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Comparison of RNA-Sequencing Methods for Degraded RNA

A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex

Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events

Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis

Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)

Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene

Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene

Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene

A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants

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