Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesNirupa Murugaesu, Reza Maroofian, Büşranur Çavdarlı et al.|Genetics in Medicine|2021Cited by 28
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Niklas Dahl, Jan Hoeber et al.|The American Journal of Human Genetics|2021Cited by 23
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Sinan Akbaş, Rauan Kaiyrzhanov et al.|Brain|2023Cited by 20
Biallelic missense variants in <scp><i>COG3</i></scp> cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, James R. Lupski, Dana Marafi et al.|Journal of Inherited Metabolic Disease|2023Cited by 7
Biallelic <i>EPB41L3</i> variants underlie a developmental disorder with seizures and myelination defectsElizabeth A. Werren, Anju Shukla, Christele Duborg et al.|Brain|2024Cited by 3