Kate Chandler
Manchester Academic Health Science Centre(GB)University of Manchester(GB)St Mary's Hospital(GB)Manchester University NHS Foundation Trust(GB)St Mary's Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Blood disorders and treatments, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study(2019)698 cited
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport