Kathryn P Burdon

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Kathryn P



Publications in SciGraph latest 50 shown

  • 2019-12 Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample in SCIENTIFIC REPORTS
  • 2018-12 Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy in BMC MEDICAL GENETICS
  • 2018-12 Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma in SCIENTIFIC REPORTS
  • 2018-08 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma in NATURE GENETICS
  • 2017-12 Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) in BMC MEDICAL GENETICS
  • 2017-11 Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-07 Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci in NATURE GENETICS
  • 2017-06 Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-06 Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03-30 Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy in NATURE COMMUNICATIONS
  • 2016-12 Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract in BMC RESEARCH NOTES
  • 2016-12 GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration in SCIENTIFIC REPORTS
  • 2016-12 A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma in BMC MEDICAL GENETICS
  • 2016-12 Pooled genome wide association detects association upstream of FCRL3 with Graves’ disease in BMC GENOMICS
  • 2016-08 A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients in ACTA DIABETOLOGICA
  • 2016-07 Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration in SCIENTIFIC REPORTS
  • 2016-05 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma in NATURE GENETICS
  • 2016-02 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma in NATURE GENETICS
  • 2016-02 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants in NATURE GENETICS
  • 2015-10 Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene in DIABETOLOGIA
  • 2015-09 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma in NATURE GENETICS
  • 2015-04 A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome in NATURE GENETICS
  • 2014-12 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process in NATURE COMMUNICATIONS
  • 2014-10 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma in NATURE GENETICS
  • 2014-10 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma in NATURE GENETICS
  • 2014-07 Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma in GENETICS IN MEDICINE
  • 2013-06 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia in NATURE GENETICS
  • 2013-03 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia in NATURE GENETICS
  • 2013-02 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus in NATURE GENETICS
  • 2012-06 Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-06 Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 in NATURE GENETICS
  • 2010-12 A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32 in BMC MEDICAL GENETICS
  • 2010-10 Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in NATURE GENETICS
  • 2010-01 Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes in HUMAN GENETICS
  • 2008-11 Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci in HUMAN GENETICS
  • 2005-08 P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study in KIDNEY INTERNATIONAL
  • 2005-07 Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease in KIDNEY INTERNATIONAL
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