DOI,IST REx ID,Title of publication
10.1016/j.gim.2023.100938,14368,"Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder"
10.1093/brain/awad380,14543,Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
10.1186/s13073-023-01258-4,14639,Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
10.1016/j.gim.2022.07.013,14355,A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
10.1002/humu.24435,14356,Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
10.1002/humu.24430,14357,WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly