Max Drabkin

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 · 54 citations · Full text

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

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

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

Daniel Halpérin, Rotem Kadir, Yonatan Perez et al. · Journal of Medical Genetics · 2018 · 46 citations

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

Max Drabkin, Yuval Yogev, Lior Zeller et al. · Journal of Clinical Investigation · 2019 · 45 citations · Full text

Urology, Renal Function, Biochemistry +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 · 38 citations · Full text

Adhd, Cdh2 Mutation, Developmental Biology +15