scholarly journals Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

2018 ◽  
Vol 20 (11) ◽  
pp. 1430-1437 ◽  
Author(s):  
Natalie Chandler ◽  
Sunayna Best ◽  
Jane Hayward ◽  
Francesca Faravelli ◽  
Sahar Mansour ◽  
...  
Keyword(s):  
Cohort Study ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Prenatal Counseling ◽  
Targeted Exome Sequencing ◽  
Potential Impact

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

2020 ◽  
Vol 40 (5) ◽  
pp. 577-584 ◽  
Author(s):  
Jin Han ◽  
Yan‐Dong Yang ◽  
Yi He ◽  
Wen‐Jie Liu ◽  
Li Zhen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Prenatal Counseling

scholarly journals Prenatal diagnosis of X-linked myopathy associated with aVMA21gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings

2017 ◽  
Vol 5 (3) ◽  
pp. 308-311 ◽  
Author(s):  
Christopher Konialis ◽  
Efstratios Assimakopoulos ◽  
Birgitta Hagnefelt ◽  
Sophia Karapanou ◽  
Alexandros Sotiriadis ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Targeted Exome Sequencing ◽  
Ultrasound Findings ◽  
Sequencing Strategy

scholarly journals Rapid Prenatal Diagnosis Using Targeted Exome Sequencing

2019 ◽  
Vol 74 (4) ◽  
pp. 202-204
Author(s):  
Natalie Chandler ◽  
Sunayna Best ◽  
Jane Hayward ◽  
Francesca Faravelli ◽  
Sahar Mansour ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Targeted Exome Sequencing

A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family

Gene ◽  
2014 ◽  
Vol 551 (1) ◽  
pp. 33-38 ◽  
Author(s):  
Yan Xu ◽  
Bing Xiao ◽  
Wen-Ting Jiang ◽  
Lei Wang ◽  
Hong-quan Gen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Novel Mutation ◽  
Targeted Exome Sequencing
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