Nechama Shalva

The mammalian Nek1 kinase is involved in primary cilium formation

Ohad Shalom, Nechama Shalva, Yoram Altschuler et al. · FEBS Letters · 2008 · 114 citations · Full text

Life Sciences, Cell Biology, Molecular Genetics +16

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Neuroscience +16

A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

Inbal Lasry, Young Ah Seo, Hadas Ityel et al. · Journal of Biological Chemistry · 2012 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev et al. · Brain · 2017 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

Yoav Bolkier, Ortal Barel, Dina Marek‐Yagel et al. · Journal of Medical Genetics · 2021 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17