Farah Ashrafzadeh

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro et al. · Brain · 2017 · 72 citations · Full text

Brain Development, Genetics, Molecular Biology +27

Assessment of Risk Factors and Prognosis in Asphyxiated Infants

Hassan Boskabadi, Farah Ashrafzadeh, Hassan Doosti et al. · Iranian Journal of Pediatrics · 2015 · 44 citations · Full text

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan et al. · Genetics in Medicine · 2020 · 36 citations

Neurodegenerative Diseases, Aldehyde Dehydrogenase, Mendelian Disorder +13

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 MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala, Geok Lin Chua, Cheen Fei Chin et al. · European Journal of Human Genetics · 2020 · 33 citations · Full text

Biallelic Mfsd2a Variants, Developmental Anomaly, Developmental Biology +10