Exome Sequencing and the Management of Neurometabolic Disorders
Exome Sequencing and the Management of Neurometabolic Disorders
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Author / Creator
Tarailo-Graovac, Maja , Shyr, Casper , Ross, Colin J , Horvath, Gabriella A , Salvarinova, Ramona , Ye, Xin C , Zhang, Lin-Hua , Bhavsar, Amit P , Lee, Jessica J.Y , Drögemöller, Britt I , Abdelsayed, Mena , Alfadhel, Majid , Armstrong, Linlea , Baumgartner, Matthias R , Burda, Patricie , Connolly, Mary B , Cameron, Jessie , Demos, Michelle , Dewan, Tammie , Dionne, Janis , Evans, A. Mark , Friedman, Jan M , Garber, Ian , Lewis, Suzanne , Ling, Jiqiang , Mandal, Rupasri , Mattman, Andre , McKinnon, Margaret , Michoulas, Aspasia , Metzger, Daniel , Ogunbayo, Oluseye A , Rakic, Bojana , Rozmus, Jacob , Ruben, Peter , Sayson, Bryan , Santra, Saikat , Schultz, Kirk R , Selby, Kathryn , Shekel, Paul , Sirrs, Sandra , Skrypnyk, Cristina , Superti-Furga, Andrea , Turvey, Stuart E , Van Allen, Margot I , Wishart, David , Wu, Jiang , Wu, John , Zafeiriou, Dimitrios , Kluijtmans, Leo , Wevers, Ron A , Eydoux, Patrice , Lehman, Anna M , Vallance, Hilary , Stockler-Ipsiroglu, Sylvia , Sinclair, Graham , Wasserman, Wyeth W and van Karnebeek, Clara D
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
In this study, whole-exome sequencing was used as the basis for providing a diagnosis in 47 probands with intellectual developmental disorder and unexplained metabolic phenotypes.
Next-generation sequencing has revolutionized the discovery of genes in which variants cause rare mendelian diseases.
1
A diagnostic yield of 16% (with most vari...
Alternative Titles
Full title
Exome Sequencing and the Management of Neurometabolic Disorders
Authors, Artists and Contributors
Author / Creator
Shyr, Casper
Ross, Colin J
Horvath, Gabriella A
Salvarinova, Ramona
Ye, Xin C
Zhang, Lin-Hua
Bhavsar, Amit P
Lee, Jessica J.Y
Drögemöller, Britt I
Abdelsayed, Mena
Alfadhel, Majid
Armstrong, Linlea
Baumgartner, Matthias R
Burda, Patricie
Connolly, Mary B
Cameron, Jessie
Demos, Michelle
Dewan, Tammie
Dionne, Janis
Evans, A. Mark
Friedman, Jan M
Garber, Ian
Lewis, Suzanne
Ling, Jiqiang
Mandal, Rupasri
Mattman, Andre
McKinnon, Margaret
Michoulas, Aspasia
Metzger, Daniel
Ogunbayo, Oluseye A
Rakic, Bojana
Rozmus, Jacob
Ruben, Peter
Sayson, Bryan
Santra, Saikat
Schultz, Kirk R
Selby, Kathryn
Shekel, Paul
Sirrs, Sandra
Skrypnyk, Cristina
Superti-Furga, Andrea
Turvey, Stuart E
Van Allen, Margot I
Wishart, David
Wu, Jiang
Wu, John
Zafeiriou, Dimitrios
Kluijtmans, Leo
Wevers, Ron A
Eydoux, Patrice
Lehman, Anna M
Vallance, Hilary
Stockler-Ipsiroglu, Sylvia
Sinclair, Graham
Wasserman, Wyeth W
van Karnebeek, Clara D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4983272
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4983272
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1515792
