Paria Najarzadeh Torbati

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani et al. · Genetics in Medicine · 2022 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth Ferrer et al. · Annals of Clinical and Translational Neurology · 2022 · 24 citations · Full text

Life Sciences, Cell Biology, Molecular Genetics +17

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Ilse Van Gucht, Josephina Meester, Jotte Rodrigues Bento et al. · The American Journal of Human Genetics · 2021 · 20 citations · Full text

Medicine, Cardiology, Molecular Medicine +15

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

Natalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian et al. · Neuromuscular Disorders · 2020 · 18 citations · Full text

Medicine, Neurology, Neuroscience +14

Genetic Insights from Consanguineous Cardiomyopathy Families

Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati et al. · Genes · 2023 · 15 citations · Full text

Medicine, Cardiology, Genetics +17