Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre

(2023) Fabian Norbert Fries et al.   KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE

Editorial: Population and ancestry specific variation in disease susceptibility

(2023) Ranajit Das et al.   Frontiers in Genetics

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

(2021) Rena A. Zinchenko et al.   Frontiers in Genetics

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

(2020) Tatyana A. Vasilyeva et al.   BMC Medical Genomics

PAX6, brain structure and function in human adults: advanced MRI in aniridia

(2016) Mahinda Yogarajah et al.   Annals of Clinical and Translational Neurology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Epidemiology of aniridia in Sweden and Norway

(2008) Ulla Edén et al.   ACTA OPHTHALMOLOGICA