Faisal Zafar

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Laura Vandervore, Rachel Schot, Chiara Milanese et al. · The American Journal of Human Genetics · 2019 · 48 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +9

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

Farah Bibi, Stéphanie Efthymiou, Thomas Bourinaris et al. · Journal of the Neurological Sciences · 2020 · 18 citations · Full text

Medicine, Molecular Genetics, Neurology +3

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca et al. · Genetics in Medicine · 2022 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17