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"
10.1186/s13073-023-01258-4,14639,Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
10.1093/g3journal/jkad121,14077,Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster
10.1016/j.ajhg.2022.09.011,12142,Liability-scale heritability estimation for biobank studies of low-prevalence disease
10.1371/journal.pgen.1009475,15272,The CATP-8/P5A-type ATPase functions in multiple pathways during neuronal patterning
10.1371/journal.pgen.1008894,12189,AXR1 affects DNA methylation independently of its role in regulating meiotic crossover localization
10.1038/s41576-018-0063-5,11059,Coaching from the sidelines: The nuclear periphery in genome regulation
10.1371/journal.pgen.1003308,11086,Dynamic association of NUP98 with the human genome
10.1007/s00412-010-0289-2,11099,Nuclear pore biogenesis into an intact nuclear envelope