TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Rita Horváth, Pedro Rebelo‐Guiomar et al.|Nature Communications|2023Cited by 30
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J. Crow, Axel Panzer, Anu Jacob et al.|American Journal of Medical Genetics Part A|2020Cited by 29
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stéphanie Efthymiou, Alexandra Montavont et al.|Neurology Genetics|2024Cited by 7