A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

by Farr, J., Harrison, S.M, Hill, A.P, Ingles, J., Jiang, C., Kroncke, B.M, Ng, C.-A, Richardson, E., Thomson, K.L, Ullah, R., Vandenberg, J.I
Published 2022

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

by Caillaud, A., Cariou, B., Chatelain, C., Di Filippo, M., Dijk, W., Durand, C., Gossez, M., Janin, A., Lindenbaum, P., Marmontel, O., Moulin, P., Nony, S., Rieusset, J., Rimbert, A., Vanhoye, X., Venet, F.
Published 2022

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

by Caillaud, A., Cariou, B., Chatelain, C., Di Filippo, M., Dijk, W., Durand, C., Gossez, M., Janin, A., Lindenbaum, P., Marmontel, O., Moulin, P., Nony, S., Rieusset, J., Rimbert, A., Vanhoye, X., Venet, F.
Published 2022