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

    • ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy(aEuro).  European Heart Journal.  37. 2016

• 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

    • The genetics of cardiomyopathy, new technologies and the path to personalised medicine 2013

• 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