Yishay Shoval

发表

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

D. Geiger, A. Fattal-Valevski, W. Westbroek, 2012, Journal of Medical Genetics.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy

J. Mullikin, W. Baze, J. Peterson, 2017, Brain : a journal of neurology.

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

P. Hanawalt, G. Spivak, L. Kalfon, 2012, Environmental and molecular mutagenesis.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.

ZIPK: A Unique Case of Murine-Specific Divergence of a Conserved Vertebrate Gene

S. Pietrokovski, A. Kimchi, Yishay Shoval, 2007, PLoS genetics.

Programmed Cell Death: from genetic screens towards system level analysis of molecular networks

E. Zalckvar, G. Shohat, D. Gozuacik, 2006 .

New Modularity of DAP-Kinases: Alternative Splicing of the DRP-1 Gene Produces a ZIPk-Like Isoform

S. Pietrokovski, A. Kimchi, Yishay Shoval, 2011, PloS one.

Phospholipase A 2-activating protein is associated with a novel form of 1 leukoencephalopathy 2

J. Mullikin, T. Vilboux, Y. Anikster, 2016 .