O64: Genomic and functional dissection of fetal brain abnormalities

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Andrea Johnson, Kelly Gilmore, Bradford C. Powell, Tam P. Sneddon, Hammad Yousaf, Tahir Khan, Emily Hardisty, Amy T. Mottola, Ginger Hocutt, Madeline J. Dyke, Asha N. Talati, Erica Davis
+1 more Neeta Vora
DOI: 10.1016/j.gimo.2026.104356
Cited by: 0

Abstract

Congenital brain abnormalities occur in approximately 2 per 1,000 live births, affecting over 3,000 newborns annually in the United States, and account for 30–40% of pediatric neurodevelopmental delays. To address a critical gap in understanding the genetic basis of fetal brain abnormalities (FBA), we conducted a prospective study integrating parent–fetus (trio) genome sequencing, detailed prenatal phenotyping, and functional modeling of candidate genes in zebrafish.

Fields of Study & Subjects

Fetal and Pediatric Neurological Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104356–104356
Publication date
1 January 2026
Language
EN