Clinical and genetic aspects of KBG syndromeKaren Low, Peter D. Turnpenny, Nicola Foulds et al.|American Journal of Medical Genetics Part A|2016Cited by 138
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G. Calame, Alison Male, Riccardo Sangermano et al.|Genetics in Medicine|2024Cited by 10
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, Riccardo Sangermano et al.|medRxiv|2024Cited by 2