Exome sequencing identifies a novel TRPV4 mutation in a CMT2C familyGuida Landouré, Charlotte J. Sumner, Yijun Shi et al.|Neurology|2012Cited by 41
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathyJeremy M. Sullivan, Charlotte J. Sumner, William W. Motley et al.|Journal of Clinical Investigation|2020Cited by 23
Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutationsAlexis K Loder, Jeremy M. Sullivan|Journal of Biological Chemistry|2025Cited by 0