Selected publications
2019
Journal Articles Refereed
- Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. Parkinsonism and Related Disorders. 64. 2019
2018
Journal Articles Refereed
- Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. Human Molecular Genetics. 27. 2018
- Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease. Stem Cell Research. 28. 2018
- The Emerging Role of Rab GTPases in the Pathogenesis of Parkinson's Disease. Movement Disorders. 2018
2016
Journal Articles Refereed
2014
Journal Articles Refereed
- Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. American Journal of Human Genetics. 95. 2014
- Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. European Journal of Human Genetics. 22. 2014
2013
Journal Articles Refereed
2012
Journal Articles Refereed
- ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible. European Journal of Human Genetics. 20. 2012
2010
Journal Articles Refereed
- Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quaking(viable) mutant mouse. Human Molecular Genetics. 19. 2010
2008
Journal Articles Refereed
- Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain. Brain Research. 1201. 2008
2005
Journal Articles Refereed
- Experimental autoimmune Goodpasture's disease: A pathogenetic role for both effector cells and antibody in injury. Kidney International. 67. 2005
- IL-12p40 and IL-18 in Crescentic Glomerulonephritis: IL-12p40 is the Key Th1-Defining Cytokine Chain, Whereas IL-18 Promotes Local Inflammation and Leukocyte Recruitment. Journal of the American Society of Nephrology. 16. 2005