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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

1, 2017

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Measurement of mitochondrial DNA copy number

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.327

2012

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Measurement of mitochondrial oxygen consumption using a Clark electrode

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.63

2012

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Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.231

2012

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Biochemical analyses of the electron transport chain complexes by spectrophotometry

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.49

2012

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Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.13-22

2017

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The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.177-200

2017

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Erratum to: Application of Next-Generation Sequencing to Hearing Loss

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.E1-E1

2017

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Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.243-286

2017

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Family-Based Next-Generation Sequencing Analysis

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.321-338

2017

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Comprehensive Analyses of the Mitochondrial Genome

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.287-304

2017

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Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.123-153

2017

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Next-Generation Sequencing Based Testing for Disorders of the Skeleton

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.113-121

2017

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Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.201-242

2017

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Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.23-49

2017

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Application of Next-Generation Sequencing to Hearing Loss

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.71-87

2017

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Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.1-11

2017

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Exome Sequencing in the Clinical Setting

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.305-320

2017

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Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.89-112

2017

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Application of Next-Generation Sequencing in Noonan Spectrum Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.155-176

2017

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Next Generation of Carrier Screening

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.339-354

2017

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The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.51-69

2017

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Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.121

2012

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Measurement of mitochondrial dNTP pools

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.135

2012

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Diagnostic challenges of mitochondrial disorders: complexities of two genomes

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.35

Graham, Brett H

2012

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Measurement of mitochondrial DNA copy number

Measurement of mitochondrial oxygen consumption using a Clark electrode

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines

Biochemical analyses of the electron transport chain complexes by spectrophotometry

Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data

The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders

Erratum to: Application of Next-Generation Sequencing to Hearing Loss

Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Family-Based Next-Generation Sequencing Analysis

Comprehensive Analyses of the Mitochondrial Genome

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

Next-Generation Sequencing Based Testing for Disorders of the Skeleton

Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion

Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways

Application of Next-Generation Sequencing to Hearing Loss

Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Exome Sequencing in the Clinical Setting

Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases

Application of Next-Generation Sequencing in Noonan Spectrum Disorders

Next Generation of Carrier Screening

The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases

Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

Measurement of mitochondrial dNTP pools

Diagnostic challenges of mitochondrial disorders: complexities of two genomes

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