Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
About this item
Full title
Author / Creator
Yang, Yaping , Muzny, Donna M , Reid, Jeffrey G , Bainbridge, Matthew N , Willis, Alecia , Ward, Patricia A , Braxton, Alicia , Beuten, Joke , Xia, Fan , Niu, Zhiyv , Hardison, Matthew , Person, Richard , Bekheirnia, Mir Reza , Leduc, Magalie S , Kirby, Amelia , Pham, Peter , Scull, Jennifer , Wang, Min , Ding, Yan , Plon, Sharon E , Lupski, James R , Beaudet, Arthur L , Gibbs, Richard A and Eng, Christine M
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Whole-exome sequencing can be used to obtain a genetic diagnosis for patients thought to be affected by a genetic disease. Here, investigators providing a sequencing service to physicians report the results for the first 250 consecutive patients who underwent analysis.
Mendelian diseases are considered to be rare, yet genetic disorders are estim...
Alternative Titles
Full title
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Authors, Artists and Contributors
Author / Creator
Muzny, Donna M
Reid, Jeffrey G
Bainbridge, Matthew N
Willis, Alecia
Ward, Patricia A
Braxton, Alicia
Beuten, Joke
Xia, Fan
Niu, Zhiyv
Hardison, Matthew
Person, Richard
Bekheirnia, Mir Reza
Leduc, Magalie S
Kirby, Amelia
Pham, Peter
Scull, Jennifer
Wang, Min
Ding, Yan
Plon, Sharon E
Lupski, James R
Beaudet, Arthur L
Gibbs, Richard A
Eng, Christine M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1443407882
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1443407882
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1306555
