Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Endoplasmic reticulum stress in human photoreceptor diseases

(2016) Priscilla Chan et al.   BRAIN RESEARCH

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

(2016) Nicole Weisschuh et al.   PLoS One

Achromatopsia mutations target sequential steps of ATF6 activation

(2016) Wei-Chieh Chiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation of ATF6 causes autosomal recessive achromatopsia

(2015) Muhammad Ansar et al.   HUMAN GENETICS

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

(2015) Susanne Kohl et al.   NATURE GENETICS

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Retinal Structure and Function in Achromatopsia

(2013) Venki Sundaram et al.   OPHTHALMOLOGY

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Electroretinograms in patients with achromatopsia

(2009) Sten Andréasson et al.   ACTA OPHTHALMOLOGICA