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
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L. Sczakiel, Felix Boschann, Max Zhao et al.|European Journal of Human Genetics|2023Cited by 8
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Reza Maroofian, Alistair T. Pagnamenta et al.|Brain Communications|2024Cited by 6
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