Ágnes Mikó

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

S. Terry, K. Tory, J. Uitto, 2022, Human mutation.

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach

K. Tory, A. Kaposi, D. Seidl, 2021, Human mutation.

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

S. Terry, K. Tory, J. Uitto, 2020, medRxiv.

C-terminal oligomerization of podocin mediates interallelic interactions

K. Tory, G. Mollet, Eszter Balogh, 2019 .

C-terminal oligomerization of podocin mediates interallelic interactions.

K. Tory, G. Mollet, C. Antignac, 2018, Biochimica et biophysica acta. Molecular basis of disease.