A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

by Bujakowska, K.M, Butcher, R., Chao, K.R, Larson, A., Mehrotra, S., Pierce, E.A, Place, E.M, Rong, S.S, Scott, H.A, Wiggs, J.L
Published 2022

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

by Bujakowska, K.M, Catomeris, A., Chao, K.R, CMG, B., Cole, B., DiTroia, S., England, E., Ferguson, C., Galdikaité-Braziené, E., Himes, S., Maher, M., Nassiri, S., Pagliarulo, J., Pierce, E.A, Place, E.M, Wagner, N.E, Zampaglione, E.
Published 2022