Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityGLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayChromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspringEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersIdentification of human D lactate dehydrogenase deficiency
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Karen J Duran