Hardcastle, Alison J.

Top Publications

Top Publications Authored or Co-Authored by "Hardcastle, Alison J."

• Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

  Nature Communications, Volume 12, No. 1, Article 1258, Year 2021, Citations 124
• Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

  Ophthalmology, Volume 130, No. 1, Year 2023, Citations 87
• Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 65
• Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

  American Journal of Human Genetics, Volume 96, No. 6, Year 2015, Citations 45