Hasnaa M. Elbendary

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 60 citations · Full text

Channelopathies, Genetic Variants, Genetic Disorder +8

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna et al. · Nature Communications · 2021 · 50 citations · Full text

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel <i>SLC30A10</i> mutations and further phenotype delineation

Maha S. Zaki, Mahmoud Y. Issa, Hasnaa M. Elbendary et al. · Clinical Genetics · 2017 · 43 citations

Hepatology, Slc30a10 Gene Cause, Genetic Disorder +12

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 34 citations

Neurodegenerative Diseases, Psychiatry, Homozygous Slc18a2 Variants +8

Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome

Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz et al. · American Journal of Medical Genetics Part A · 2020 · 27 citations · Full text