CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

by Bayat, A., Blankenberg, D., Brünger, T., Collins, R.L, Klöckner, C., Lal, D., Lemke, J.R, Macnee, M., May, P., Møller, R.S, Montanucci, L., Nothnagel, M., Pérez-Palma, E., Platzer, K., Radtke, M., Stefanski, A., Talkowski, M.
Published 2023

MCKAT: a multi-dimensional copy number variant kernel association test

by Catchpoole, D., Kennedy, P.J, Khan, J., Maus Esfahani, N.
Published 2021

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

by Bhoj, E.J, Brasch-Andersen, C., Brites, P., Bupp, C., Caluseriu, O., Costa, A.R, Fagerberg, C., Falk, M.J, Feng, I., Ganetzky, R.D, Hakonarson, H., Hansen, L.K, Hill, R.S, Hu, K., Kahle, K.T, Kang, B., Li, D., Muraresku, C.C, Neil, J.E, Pinto-Costa, R., Qi, C., Ruan, X., Sousa, M.M, Walsh, C.A, Zhang, X., Zhong, R.
Published 2022

Natural Barcodes for Longitudinal Single Cell Tracking of Leukemic and Immune Cell Dynamics

by Gohil, S.H, Penter, L., Wu, C.J
Published 2022

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies

by Akesson, L.S, Amarasekera, S., Bordador, E., Brown, N.J, Chai, C., Chong, B., Christodoulou, J., Compton, A.G, Donoghue, S., Guo, Y., Hakonarson, H., Lee, C., Lunke, S., Marum, J., Monaco, A., Rius, R., Rosenbaum, J., Stark, Z., Stormon, M., Thorburn, D.R
Published 2022

A mutation-based gene set predicts survival benefit after immunotherapy across multiple cancers and reveals the immune response landscape

by Bian, J., Chen, P., Lin, Y., Long, J., Sang, X., Wang, A., Wang, D., Yang, X., Zhang, H., Zhao, H., Zheng, M., Zheng, Y.
Published 2022

First Japanese Family with PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications

by Aizawa-Abe, M., Enya, M., Hamasaki, A., Honjo, S., Horikawa, Y., Hosomichi, K., Iwasaki, K., Iwasaki, Y., Keidai, Y., Kubota, S., Yabe, D., Yoshiji, S.
Published 2022