Ben Pode‐Shakked

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Arcangela Iuso, Marit Wiersma, Hans‐Joachim Schüller et al. · The American Journal of Human Genetics · 2018 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +10

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Yuh‐Charn Lin, Marcello Niceta, Valentina Muto et al. · The American Journal of Human Genetics · 2020 · 66 citations · Full text

Life Sciences, Developmental Biology, Genetics +13