Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities

Author:

Drexler Kathleen A.ORCID,Talati Asha N.,Gilmore Kelly L.,Veazey Rachel V.,Powell Bradford C.,Weck Karen E.,Davis Erica E.,Vora Neeta L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference23 articles.

1. Evaluation of fetal central nervous system anomalies by ultrasound and its anatomical co-relation;Onkar;J Clin Diagn Res,2014

2. Central nervous system malformations in a perinatal/neonatal autopsy series;Pinar;Pediatr Dev Pathol,1998

3. Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: applications in prenatal diagnosis;Sepulveda;Best Pract Res Clin Obstet Gynaecol,2012

4. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges;Vora;Genet Med,2017

5. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder;Normand;Genome Med,2018

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