Dr. Simranpreet Kaur
Research Fellow – Brain And Mitochondrial Rg
Paediatrics Royal Children's Hospital
24 Scholarly works
0 Projects
HIGHLIGHTS
2021
Journal article
Osteal macrophages support osteoclast-mediated resorption and contribute to bone pathology in a postmenopausal osteoporosis mouse model.
DOI: 10.1002/jbmr.44132021
Journal article
345 Abrogation of Sox9 expression in the endothelium blocks aberrant vascular EndMT and fibrosis
DOI: 10.1016/j.jid.2021.08.3542021
Journal article
353 Investigating the Contribution of Endothelial to Mesenchymal Transition (EndMT) and Vascular Sox9 to Fibrosis in Scleroderma
DOI: 10.1016/j.jid.2021.08.3622021
Journal article
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
DOI: 10.1016/j.xhgg.2021.1000262020
Journal article
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
DOI: 10.1016/j.jgg.2020.09.0032020
Journal article
Cover, Volume 41, Issue 10
DOI: 10.1002/humu.241152020
Journal article
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
DOI: 10.1002/humu.24079
RECENT SCHOLARLY WORKS
2020
Thesis / Dissertation
Identifying novel disease genes in genetically undiagnosed individuals with Rett syndrome and related neurodevelopmental disorders
2019
Journal article
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient
DOI: 10.1002/ccr3.25112019
Journal article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
DOI: 10.1111/cge.13473