Regina Proskorovski‐Ohayon

Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactone

Yuval Yogev, Zamir Shorer, Arie Koifman et al. · Proceedings of the National Academy of Sciences · 2023 · 59 citations · Full text

Medicine, Genetics, Pharmacology +14

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice

Daniel Halpérin, Alexandra Stavsky, Rotem Kadir et al. · Nature Communications · 2021 · 41 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<i>PAX7</i>mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay

Regina Proskorovski‐Ohayon, Rotem Kadir, Analia Michalowski et al. · Human Mutation · 2017 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17

<scp><i>PSMC1</i></scp> variant causes a novel neurological syndrome

Sarit Aharoni, Regina Proskorovski‐Ohayon, Ramesh Kumar Krishnan et al. · Clinical Genetics · 2022 · 14 citations · Full text

Life Sciences, Genetics, Neurology +12

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

Noam Hadar, Vadim Dolgin, Katya Oustinov et al. · Human Genetics · 2024 · 11 citations

Life Sciences, Bioinformatics, Genetics +14