Michael Volodarsky

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Yonatan Perez, Zamir Shorer, Keren Liani-Leibson et al. · Brain · 2017 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Michael Volodarsky, Barak Markus, Idan Cohen et al. · Human Mutation · 2013 · 90 citations

Medicine, Genetics, Molecular Genetics +17

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

Rotem Kadir, Tamar Harel, Barak Markus et al. · PLoS Genetics · 2016 · 89 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Idan Cohen, Eldad Silberstein, Yonatan Perez et al. · European Journal of Human Genetics · 2013 · 59 citations

Life Sciences, Genetics, Molecular Genetics +8

<i>UNC80</i> mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel <i>NALCN</i>

Yonatan Perez, Rotem Kadir, Michael Volodarsky et al. · Journal of Medical Genetics · 2015 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17