Association of Polymorphisms in the Hepatocyte Growth Factor Gene Promoter with Keratoconus

Kathryn P. Burdon, Stuart MacGregor, Yelena Bykhovskaya, +25

Investigative Ophthalmology & Visual Science

Evidence of Cryptosporidium transmission between cattle and humans in northern New South Wales

Josephine Su Yin Ng, Keith Eastwood, Belinda Walker, +9

Experimental Parasitology

Parasitic DiseaseAnimal ScienceZoonotic DiseaseVeterinary ScienceEducation +5

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Kamron N. Khan, Adam K Rudkin, David Parry, +26

The American Journal of Human Genetics

Homozygous MutationsCongenital Cataract-microcorneaOcular DiseaseDevelopmental BiologyOphthalmology +11

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Kathryn P. Burdon, Douglas J. Coster, Jac Charlesworth, +6

Human Genetics

BiologyGenetic DisorderMedicineGeneticsLinkage Analysis +7

Aldose Reductase Gene Polymorphisms and Diabetic Retinopathy Susceptibility

Sotoodeh Abhary, Kathryn P. Burdon, Kate J. Laurie, +6

Diabetes Care

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

Alpana Dave, Kate J. Laurie, Sandra E. Staffieri, +7

PLoS ONE

Ocular DiseaseGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +16

Identification of a Novel Oligomerization Disrupting Mutation in<i>CRYΑA</i>Associated with Congenital Cataract in a South Australian Family

Kate J. Laurie, Alpana Dave, Tania Straga, +9

Human Mutation

Congenital CataractOcular DiseaseOphthalmologyGeneticsSevere Visual Impairment +8

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Owen M. Siggs, Mona S. Awadalla, Emmanuelle Souzeau, +17

Clinical Genetics

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsGenomics +15

Pooled genome wide association detects association upstream of FCRL3 with Graves’ disease

Jwu Jin Khong, Kathryn P. Burdon, Yi Lu, +17

BMC Genomics

Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy

Jwu Jin Khong, Kathryn P. Burdon, Yi Lu, +14

Investigative Ophthalmology & Visual Science