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 variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G. Calame, Alison Male, Lama AlAbdi et al.|Genetics in Medicine|2024Cited by 10
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Hudson H. Freeze, Laura Harrold et al.|The American Journal of Human Genetics|2025Cited by 5
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G. Calame, Reza Boostani, Jovi Huixin Wong et al.|medRxiv|2024Cited by 2