Kate Pope
Royal Children's Hospital(AU)Murdoch Children's Research Institute(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, DNA Repair Mechanisms
Most-Cited Works
- → Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS(2019)282 cited
- → Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology(2014)270 cited
- → Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features(2014)241 cited
- → Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants(2018)220 cited
- → Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity(2013)185 cited
- → The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care(2015)170 cited
- → An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14(2022)159 cited
- → Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3(2015)133 cited
- → Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5(2015)100 cited
- → Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia(2016)97 cited