Noam Hadar

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

Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice

Noam Hadar, Omri Porgador, Idan Cohen et al. · European Journal of Human Genetics · 2024 · 14 citations · Full text

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Orna Staretz‐Chacham, Iris Noyman, Ohad Wormser et al. · Clinical Genetics · 2020 · 13 citations · Full text

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

Sarit Aharoni, Regina Proskorovski‐Ohayon, Ramesh Kumar Krishnan et al. · Clinical Genetics · 2022 · 12 citations · Full text

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 · 10 citations