Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.

A rare neurodevelopmental disorder has been linked to a well-conserved splice site variant in the TRAPPC4 gene (c.454 + 3A > G), which causes mis-splicing of TRAPPC4 transcripts and reduced levels of TRAPPC4 protein. Patients present with severe progressive neurological symptoms including seizures, microcephaly, intellectual disability and facial dysmorphism.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

Depth-dependent study of time-reversal symmetry-breaking in the kagome superconductor AVSb.

The breaking of time-reversal symmetry (TRS) in the normal state of kagome superconductors AVSb stands out as a significant feature, but its tunability is unexplored. Using low-energy muon spin rotation and local field numerical analysis, we study TRS breaking as a function of depth in single crystals of RbVSb (with charge order) and Cs(VTa)Sb (without charge order). In the bulk of RbVSb (>33 nm from the surface), we observed an increase in the internal magnetic field width in the charge-ordered state.

Emergence of Interfacial Magnetism in Strongly-Correlated Nickelate-Titanate Superlattices.

Strongly-correlated transition-metal oxides are widely known for their various exotic phenomena. This is exemplified by rare-earth nickelates such as LaNiO, which possess intimate interconnections between their electronic, spin, and lattice degrees of freedom. Their properties can be further enhanced by pairing them in hybrid heterostructures, which can lead to hidden phases and emergent phenomena.