Xuanzhu Liu

TL;DR: It is confirmed that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes, and modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex.

TL;DR: SLC25A12 sequencing should be considered in children with infantile epilepsy, congenital hypotonia, global delay, abnormal myelination, and reduced brain NAA, as results of WES and functional validation in a consanguineous Indian kindred strongly suggest.

TL;DR: This report describes two Italian siblings presenting with encephalomyopathy and mtDNA depletion in muscle and identifies a novel homozygous missense mutation in the SUCLA2 gene in a highly conserved aminoacid residue.

TL;DR: Target resequencing by pooling long-range polymerase chain reaction amplicons has been used in the identification of mutations in ADPKD and indicated that the screening accuracy of PKD1 and PKD2 can be largely improved by using a greater sequencing depth and elaborate design of the capture probe.

TL;DR: These results are in line with recent evidence of the existence of intermediate phenotypes in PRS-I deficiency syndromes and demonstrate that females can exhibit a disease phenotype as severe and complex as their male counterparts.