Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline Dias, Reza Maroofian, Jaya Punetha et al.|The American Journal of Human Genetics|2019Cited by 58
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Esma Şengenç, Reza Maroofian et al.|Genetics in Medicine|2022Cited by 39
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38
<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Yaping Yang, Pirjo Isohanni et al.|Annals of Neurology|2021Cited by 25
Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, James R. Lupski, Jawid M. Fatih et al.|Brain|2021Cited by 25