Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disord...
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
About this item
Full title
Author / Creator
Normand, Elizabeth A , Braxton, Alicia , Nassef, Salma , Ward, Patricia A , Vetrini, Francesco , He, Weimin , Patel, Vipulkumar , Qu, Chunjing , Westerfield, Lauren E , Stover, Samantha , Dharmadhikari, Avinash V , Muzny, Donna M , Gibbs, Richard A , Dai, Hongzheng , Meng, Linyan , Wang, Xia , Xiao, Rui , Liu, Pengfei , Bi, Weimin , Xia, Fan , Walkiewicz, Magdalena , Van den Veyver, Ignatia B , Eng, Christine M and Yang, Yaping
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting.
We retrospectively reviewed indications, results, time to r...
Alternative Titles
Full title
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Authors, Artists and Contributors
Author / Creator
Braxton, Alicia
Nassef, Salma
Ward, Patricia A
Vetrini, Francesco
He, Weimin
Patel, Vipulkumar
Qu, Chunjing
Westerfield, Lauren E
Stover, Samantha
Dharmadhikari, Avinash V
Muzny, Donna M
Gibbs, Richard A
Dai, Hongzheng
Meng, Linyan
Wang, Xia
Xiao, Rui
Liu, Pengfei
Bi, Weimin
Xia, Fan
Walkiewicz, Magdalena
Van den Veyver, Ignatia B
Eng, Christine M
Yang, Yaping
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5b87d94797ee4e7982b770ab57a6282f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5b87d94797ee4e7982b770ab57a6282f
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-018-0582-x
