Arboleda, Valerie A.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

Freund, M. K., Burch, K. S., Shi, H., Mancuso, N., Kichaev, G., Garske, K. M., Pan, D. Z., Miao, Z., Mohlke, K. L., Laakso, M., et al. (2018) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

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