The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders

Clinical Genetics ◽

10.1111/cge.13548 ◽

2019 ◽

Vol 96 (2) ◽

pp. 140-150 ◽

Cited By ~ 7

Author(s):

Qingguo Jiao ◽

Haiming Sun ◽

Haoya Zhang ◽

Ran Wang ◽

Suting Li ◽

...

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Author response for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v2/response1 ◽

2019 ◽

Author(s):

Qingguo Jiao ◽

Haiming Sun ◽

Haoya Zhang ◽

Ran Wang ◽

Suting Li ◽

...

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Author Response ◽

Whole Exome ◽

Number Variation

Download Full-text

Review for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v1/review3 ◽

2019 ◽

Author(s):

Amal AlQassmi

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Decision letter for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v1/decision1 ◽

2019 ◽

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Author response for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v3/response1 ◽

2019 ◽

Author(s):

Qingguo Jiao ◽

Haiming Sun ◽

Haoya Zhang ◽

Ran Wang ◽

Suting Li ◽

...

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Author Response ◽

Whole Exome ◽

Number Variation

Download Full-text

Decision letter for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v2/decision1 ◽

2019 ◽

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Review for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v1/review2 ◽

2019 ◽

Author(s):

Saba Ahmad

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Review for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v1/review1 ◽

2019 ◽

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Review for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v2/review1 ◽

2019 ◽

Author(s):

Saba Ahmad

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

Decision letter for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"

10.1111/cge.13548/v3/decision1 ◽

2019 ◽

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurological Disorders ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text

782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach

Journal of Investigative Dermatology ◽

10.1016/j.jid.2018.03.792 ◽

2018 ◽

Vol 138 (5) ◽

pp. S133

Author(s):

A. Sorlin ◽

Tisserant ◽

J. Thevenon ◽

V. Carmignac ◽

Y. Duffourd ◽

...

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Copy Number ◽

Whole Exome ◽

Number Variation

Download Full-text