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Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate

Journal of medical science, 2020-06, Vol.89 (2), p.e414

2020

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A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations

Biological psychiatry (1969), 2024-05, Vol.95 (9), p.881-887

2024

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Whole exome sequencing in recurrent early pregnancy loss

Molecular human reproduction, 2016-05, Vol.22 (5), p.364-372

2016

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The single nucleotide variant n.60G>C in the microRNA-146a associated with susceptibility to drug-resistant epilepsy

Epilepsy research, 2020-05, Vol.162, p.106305-106305, Article 106305

2020

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Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance

Gene, 2023-04, Vol.859, p.147217, Article 147217

2023

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Analyzing community wastewater in sub-sewersheds for the small-scale detection of SARS-CoV-2 variants in a German metropolitan area

The Science of the total environment, 2023-11, Vol.898, p.165458-165458, Article 165458

2023

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A Comprehensive Survey of Genomic Mutations in Breast Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets

Frontiers in oncology, 2022-03, Vol.12, p.786438-786438

2022

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Whole genome sequencing discriminates hepatocellular carcinoma with intrahepatic metastasis from multi-centric tumors

Journal of hepatology, 2017-02, Vol.66 (2), p.363-373

2017

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dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

Genome medicine, 2020-12, Vol.12 (1), p.103-103, Article 103

2020

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Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution

Muscle & nerve, 2024-10, Vol.70 (4), p.862-872

2024

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Rescue of Senecavirus A to uncover mutation profiles of its progenies during 80 serial passages in vitro

Veterinary microbiology, 2021-02, Vol.253, p.108969-108969, Article 108969

2021

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Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations

British journal of haematology, 2019-08, Vol.186 (4), p.e100-e103

2019

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Genetics of Schizophrenia: Overview of Methods, Findings and Limitations

Frontiers in human neuroscience, 2017-06, Vol.11, p.322-322

2017

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Development of a high-resolution molecular marker for tracking Phaeocystis globosa genetic diversity through comparative analysis of chloroplast genomes

Harmful algae, 2020-11, Vol.99, p.101911-101911, Article 101911

2020

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Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

BMC bioinformatics, 2019-06, Vol.20 (1), p.342-342, Article 342

2019

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CRISPR-Mediated Base Editing: Promises and Challenges for a Viable Oncotherapy Strategy

Human gene therapy, 2023-08, Vol.34 (15-16), p.669-681

2023

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Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing

Gene, 2023-02, Vol.853, p.147069-147069, Article 147069

2023

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IS256-Mediated Overexpression of the WalKR Two-Component System Regulon Contributes to Reduced Vancomycin Susceptibility in a Staphylococcus aureus Clinical Isolate

Frontiers in microbiology, 2019-08, Vol.10, p.1882-1882

2019

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High-fidelity detection of DNA combining the CRISPR/Cas9 system and hairpin probe

Biosensors & bioelectronics, 2021-07, Vol.184, p.113212-113212, Article 113212

2021

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The impact of signal pre-processing on the final interpretation of analytical outcomes – A tutorial

Analytica chimica acta, 2019-06, Vol.1058, p.9-17

2019

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Application of next-generation sequencing to characterize novel mutations in clarithromycin-susceptible Helicobacter pylori strains with A2143G of 23S rRNA gene

Annals of clinical microbiology and antimicrobials, 2018-03, Vol.17 (1), p.10-10, Article 10

2018

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An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data

Frontiers in genetics, 2021-09, Vol.12, p.709555-709555

2021

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microRNAs deregulation in head and neck squamous cell carcinoma

Head & neck, 2021-02, Vol.43 (2), p.645-667

2021

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Obtaining the best igRNAs for bystander-less correction of all ABE-reversible pathogenic SNVs using high-throughput screening

Molecular therapy, 2023-04, Vol.31 (4), p.1167-1176

2023

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Selected cachaça yeast strains share a genomic profile related to traits relevant to industrial fermentation processes

Applied and environmental microbiology, 2024-01, Vol.90 (1), p.e0175923

2024

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Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate

A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations

Whole exome sequencing in recurrent early pregnancy loss

The single nucleotide variant n.60G>C in the microRNA-146a associated with susceptibility to drug-resistant epilepsy

Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance

Analyzing community wastewater in sub-sewersheds for the small-scale detection of SARS-CoV-2 variants in a German metropolitan area

A Comprehensive Survey of Genomic Mutations in Breast Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets

Whole genome sequencing discriminates hepatocellular carcinoma with intrahepatic metastasis from multi-centric tumors

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution

Rescue of Senecavirus A to uncover mutation profiles of its progenies during 80 serial passages in vitro

Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations

Genetics of Schizophrenia: Overview of Methods, Findings and Limitations

Development of a high-resolution molecular marker for tracking Phaeocystis globosa genetic diversity through comparative analysis of chloroplast genomes

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

CRISPR-Mediated Base Editing: Promises and Challenges for a Viable Oncotherapy Strategy

Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing

IS256-Mediated Overexpression of the WalKR Two-Component System Regulon Contributes to Reduced Vancomycin Susceptibility in a Staphylococcus aureus Clinical Isolate

High-fidelity detection of DNA combining the CRISPR/Cas9 system and hairpin probe

The impact of signal pre-processing on the final interpretation of analytical outcomes – A tutorial

Application of next-generation sequencing to characterize novel mutations in clarithromycin-susceptible Helicobacter pylori strains with A2143G of 23S rRNA gene

An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data

microRNAs deregulation in head and neck squamous cell carcinoma

Obtaining the best igRNAs for bystander-less correction of all ABE-reversible pathogenic SNVs using high-throughput screening

Selected cachaça yeast strains share a genomic profile related to traits relevant to industrial fermentation processes

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