Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders Latest Publications

Next Generation ◽

Spectrum Disorders ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

Comprehensive Analyses of the Mitochondrial Genome

10.1007/978-3-319-56418-0_13 ◽

2017 ◽

pp. 287-304

Author(s):

Victor Wei Zhang ◽

Lee-Jun C. Wong

Keyword(s):

Mitochondrial Genome

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

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

10.1007/978-3-319-56418-0_1 ◽

2017 ◽

pp. 1-11

Author(s):

Lee-Jun C. Wong

Keyword(s):

Clinical Utility ◽

Genetic Disorders ◽

Next Generation ◽

Human Genetic Disorders ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

Family-Based Next-Generation Sequencing Analysis

10.1007/978-3-319-56418-0_15 ◽

2017 ◽

pp. 321-338

Author(s):

Xia Wang ◽

Linyan Meng ◽

Magalie S. Leduc

Keyword(s):

Sequencing Analysis ◽

Next Generation ◽

Next Generation Sequencing Analysis ◽

Family Based ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

10.1007/978-3-319-56418-0_8 ◽

2017 ◽

pp. 123-153

Author(s):

Holly LaDuca ◽

Shuwei Li ◽

A. J. Stuenkel ◽

Virginia Speare ◽

Jill S. Dolinsky ◽

...

Keyword(s):

Hereditary Cancer ◽

Cancer Susceptibility ◽

Panel Testing ◽

Multigene Panel Testing ◽

Multigene Panel

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

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

10.1007/978-3-319-56418-0_17 ◽

2017 ◽

pp. E1-E1

Author(s):

Lisa Dyer ◽

Xinjian Wang ◽

Kejian Zhang ◽

John Greinwald ◽

C. Alexander Valencia

Keyword(s):

Hearing Loss ◽

Next Generation ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

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

10.1007/978-3-319-56418-0_3 ◽

2017 ◽

pp. 23-49

Author(s):

Elizabeth B. Gorman ◽

Lee-Jun C. Wong

Keyword(s):

Metabolic Pathways ◽

Panel Analysis ◽

Next Generation ◽

Next Generation Sequencing Ngs ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

Next Generation of Carrier Screening

10.1007/978-3-319-56418-0_16 ◽

2017 ◽

pp. 339-354

Author(s):

Anastasia Fedick ◽

Jinglan Zhang

Keyword(s):

Carrier Screening ◽

Next Generation

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

Next-Generation Sequencing Based Testing for Disorders of the Skeleton

10.1007/978-3-319-56418-0_7 ◽

2017 ◽

pp. 113-121

Author(s):

Allison Tam ◽

Victor Wei Zhang ◽

Lee Jun Wong ◽

Sandesh C. S. Nagamani

Keyword(s):

Next Generation ◽

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

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

10.1007/978-3-319-56418-0_6 ◽

2017 ◽

pp. 89-112

Author(s):

Lijun Wang ◽

C. Alexander Valencia ◽

Rebecca A. Marsh ◽

Kejian Zhang

Keyword(s):

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Next Generation ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽