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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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Germline cytoskeletal and extra-cellular matrix-related single nucleotide variations associated with distinct cancer survival rates

Gene, 2018-08, Vol.669, p.91-98

2018

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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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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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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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Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer

Gene, 2021-02, Vol.768, p.145304-145304, Article 145304

2021

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

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

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

Germline cytoskeletal and extra-cellular matrix-related single nucleotide variations associated with distinct cancer survival rates

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

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

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

Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer

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

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

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

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

Genetics of Schizophrenia: Overview of Methods, Findings and Limitations

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

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

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