Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly

Author:

Szalai Renata,Till Agnes,Gyenesei Attila,Bene Judit,Hadzsiev Kinga

Funder

University of Pécs Medical School

Publisher

Elsevier BV

Reference30 articles.

1. Infant mortality statistics from the 2013 period linked birth/infant death data set;Matthews;Natl. Vital Stat. Rep.,2015

2. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study;Boyd;J. Med. Screen.,2011

3. Whole exome sequencing: applications in prenatal genetics;Jelin Acvora;Obstet. Gynecol. Clin. N. Am.,2018

4. Promises, pitfalls and practicalities of prenatal whole exome sequencing;Best;Prenat. Diagn.,2018

5. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities;Drury;Prenat. Diagn.,2015

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