Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.
Paul R HillmanCraig BakerLuke HebertMichael BrownJames HixsonAllison Ashley-KochAlanna C MorrisonHope NorthrupKit Sing AuPublished in: Molecular genetics & genomic medicine (2020)
We provide a means of utilizing large publicly available sequencing datasets as controls for sequencing projects examining rare disease. This approach confirmed existing risk genes for myelomeningocele and identified possible novel risk genes. Lastly, it suggests possible distinct genetic etiologies for this malformation between different ethnicities.