Concepedia

Shari Javadiyan

SJ

Statistics

Publications

8

Citations

443

H-Index

8

Active since

2016

Affiliations

Flinders University(Current)

University of Tasmania

Women's and Children's Hospital

The University of Western Australia

Flinders Medical Centre

Shari Javadiyan is an author at Flinders University specializing in medicine, ophthalmology, and glaucoma.

Top concepts

Publications per year

2016–2020

8

Publications

8

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson et al. · Journal of Clinical Investigation · 2017 · 196 citations · Full text

, , +18

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Owen M. Siggs, Emmanuelle Souzeau, Deepa Taranath et al. · Ophthalmology · 2020 · 68 citations · Full text

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma

Adrian Lahola-Chomiak, Tim Footz, Kim Nguyen-Phuoc et al. · Human Molecular Genetics · 2018 · 66 citations · Full text

, , +15

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Shari Javadiyan, Jamie E. Craig, Shiwani Sharma et al. · BMC Medical Genetics · 2017 · 29 citations · Full text

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau et al. · G3 Genes Genomes Genetics · 2017 · 29 citations · Full text

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