Ressler, A. K., & Goldstein, D. B. (2022). Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases. Molecular Genetics & Genomic Medicine, 11(1). Portico. https://doi.org/10.1002/mgg3.2097

Lee, W., de Prisco, N., & Gennarino, V. A. (2022). Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. STAR Protocols, 3(1), 101150. https://doi.org/10.1016/j.xpro.2022.101150

Ng, B., Casazza, W., Kim, N. H., Wang, C., Farhadi, F., Tasaki, S., Bennett, D. A., De Jager, P. L., Gaiteri, C., & Mostafavi, S. (2021). Cascading epigenomic analysis for identifying disease genes from the regulatory landscape of GWAS variants. PLOS Genetics, 17(11), e1009918. https://doi.org/10.1371/journal.pgen.1009918