- Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease.Ophthalmology. 2017; 124: 1314-1331
- What is next generation sequencing?.Arch Dis Child Educ Pract Ed. 2013; 98: 236-238
- The current status of molecular diagnosis of inherited retinal dystrophies.Curr Opin Ophthalmol. 2015; 26: 346-351
- Molecular findings from 537 individuals with inherited retinal disease.J Med Genet. 2016; 53: 761-767
- Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease.Ophthalmology. 2016; 123: 1143-1150
- Genetic testing for age related macular degeneration. Not indicated now.JAMA Ophthalmol. 2015; 133: 598-600
- Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.Ophthalmology. 2012; 119: 2408-2410
- The costs of genetic testing for ocular disease: who pays?.Curr Opin Ophthalmol. 2014; 25: 394-399
Molecular genetic testing provides a very specific diagnosis, which will aid genetic counseling for the patients and the wider family members.
Financial Disclosure(s): The author made the following disclosure(s): A.T.M.: Personal fees – Sanofi, 4DMT, Oxford Biomedica, and ProQR.