Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
Author:
Affiliation:
1. North-East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Foundation Trust; London UK
2. Genetics and Genomic Medicine; UCL Institute of Child Health; London UK
Funder
Great Ormond Street Hospital Children's Charity
NIHR Comprehensive Biomedical Research Centre
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference40 articles.
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2. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation;Souka;Ultrasound Obstet Gynecol,1998
3. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach;Chitty;Prenat Diagn,2015
4. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders;Yang;N Engl J Med,2013
5. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units;Saunders;Sci Transl Med,2012
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