Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.

Hager JaouadiChris JoplingFanny BajolleAlexis ThéronAdèle FaucherreHilla GerardSarab Al DybiatCaroline OvaertDamien BonnetJean-François AvierinosStephane Zaffran

Published in: Journal of translational medicine (2023)

Our results further reinforce the implication of the ROBO4 gene not only in BAV but also in ToF hence the importance of its inclusion in clinical genetic testing. The remaining ROBO and SLIT genes may be screened in patients with negative or inconclusive genetic tests.

Keyphrases

genome wide
genome wide identification
copy number
mass spectrometry
dna methylation
ms ms
genome wide analysis
gene expression
bioinformatics analysis