Browse our research and novel test development publications

MVL is committed to developing unique testing methods that improve our ability to detect new disease genes and novel mutation mechanisms. We are actively engaged with numerous research collaborators and we are continuously improving our testing menu to incorporate our latest findings. For example, because of our research on the founder Ashkenazi Jewish mutations, our MVL Vision Panel now includes NGS, gel analysis testing of large founder deletions in CACNA2D4, CLN3, MAK, and TRPM1, as well as RPGR ORF15 sequencing. By offering these tests for every patient, we now offer the most comprehensive testing service for IRD.

Research Publications

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.
Ophthalmic Genetics, 2017: ahead-of-print, pp. 1-2.

A novel de novo frameshift mutation in the PRPF31 gene causing retinitis pigmentosa in a patient with tattoo related sarcoid panuveitis.
Manuscript in preparation.

A new genetic mechanism for LCA due to a complete homozygous CRX deletion and mild foveal phenotypes in heterozygous carriers.
Manuscript in preparation.

RPGR mutations in patients with inherited retinal dystrophy (IRD).
Manuscript in preparation.

Review Publications

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.
Expert Review of Molecular Diagnostics; 2015; Volume 15, Issue 10, p 1269-1275.

The current status of molecular diagnosis of inherited retinal dystrophies.
Current Opinion in Ophthalmology: 2015; Volume 26, Issue 5, p 346–351.

Challenges confronting precision medicine in the context of inherited retinal disorders.
Expert Review of Precision Medicine and Drug Development: Personalized medicine in drug development and clinical practice. 2016; Volume 1, Issue 2, 195-205.