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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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WT1 , NR0B1 , NR5A1 , LHX9 , ZFP92 , ZNF275 , INSL3 , and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort

Genes, 2022-03, Vol.13 (4), p.611

Ramos, Luis

2022

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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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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

Cell, 2022-09, Vol.185 (18), p.3426-3440.e19

2022

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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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Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments

Genes, 2021-09, Vol.12 (10), p.1558

2021

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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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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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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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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

Volltextzugriff (PDF)

Genetics Insight for COVID-19 Susceptibility and Severity: A Review

Frontiers in immunology, 2021-04, Vol.12, p.622176-622176

2021

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Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

Current Protocols in Bioinformatics, 2013-12, Vol.44 (1), p.15.4.1-15.4.17

2013

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Rapid and accurate nucleobase detection using FnCas9 and its application in COVID-19 diagnosis

Biosensors & bioelectronics, 2021-07, Vol.183, p.113207-113207, Article 113207

2021

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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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Genome-Wide Meta-Analysis Identifies 11 Susceptibility Variants of Vitiligo in the Chinese Han Population

Journal of investigative dermatology, 2024-08, Vol.144 (8), p.1843-1849.e1

2024

Volltextzugriff (PDF)

Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

Developmental cell, 2023-11, Vol.58 (21), p.2206-2216.e5

2023

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Genome medicine, 2017-11, Vol.9 (1), p.101-101, Article 101

2017

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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

Volltextzugriff (PDF)

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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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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Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

Genomics (San Diego, Calif.), 2019-07, Vol.111 (4), p.869-882

2019

Volltextzugriff (PDF)

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

WT1 , NR0B1 , NR5A1 , LHX9 , ZFP92 , ZNF275 , INSL3 , and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort

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

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

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

Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments

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

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

Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations

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

Genetics Insight for COVID-19 Susceptibility and Severity: A Review

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

Rapid and accurate nucleobase detection using FnCas9 and its application in COVID-19 diagnosis

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

Genome-Wide Meta-Analysis Identifies 11 Susceptibility Variants of Vitiligo in the Chinese Han Population

Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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

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

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

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

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

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