Nebal Waill Saadi

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 · 47 citations · Full text

Developmental Biology, Cell Regulation, Brain Development +10

<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Linyan Meng, Pirjo Isohanni, Yunru Shao et al. · Annals of Neurology · 2021 · 24 citations · Full text

Brain Development, Neurological Disorder, Genetics +17

A novel homozygous <scp><i>SLC13A5</i></scp> whole‐gene deletion generated by <scp><i>Alu/Alu</i></scp>‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

Ruizhi Duan, Nebal Waill Saadi, Christopher M. Grochowski et al. · American Journal of Medical Genetics Part A · 2021 · 20 citations · Full text

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Quentin Thomas, Thierry Gautier, Dana Marafi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Intellectual Impairment, Neuropsychological Functioning, Variable Expressivity +7

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

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca et al. · Genetics in Medicine · 2022 · 16 citations · Full text