Ta-Shma Asaf

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

K. Kaestner, A. Brice, S. Lesage, 2012, PloS one.

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Yair Anikster, Sharon Aharoni, Bruria Ben-Zeev, 2013, Blood.

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

M. Hurles, A. McCallion, A. Franco‐Cereceda, 2019, Nature Genetics.