Ohad Wormser

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

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

Max Drabkin, Yuval Yogev, Lior Zeller et al. · Journal of Clinical Investigation · 2019 · 49 citations · Full text

Life Sciences, Biochemistry, Genetics +17

<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome

Daniel Halpérin, Rotem Kadir, Yonatan Perez et al. · Journal of Medical Genetics · 2018 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

Ohad Wormser, Libe Gradstein, Yuval Yogev et al. · European Journal of Human Genetics · 2019 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Yonatan Perez, Reut Bar-Yaacov, Rotem Kadir et al. · Brain · 2019 · 46 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16