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
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Henry Houlden, Mehdi Benkirane et al.|Genetics in Medicine|2022Cited by 28
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D’Onofrio, Vanja Nagy, Andrea Accogli et al.|Human Genetics|2023Cited by 18
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Fuad Al Mutairi, Reza Maroofian et al.|Genetics in Medicine|2023Cited by 12
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G. Calame, Alison Male, Jawid M. Fatih et al.|Genetics in Medicine|2024Cited by 10