Publications

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

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort
Investigative Ophthalmology and Visual Science, 2018, Volume 59, Issue 11, 4434-4440.

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
Scientific Reports, 2018, Volume 8, Article number: 5034.

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes
Ophthalmic Genetics, 2017, Volume 39, Issue 1, p. 135-136.

A novel de novo frameshift mutation in the PRPF31 gene causing retinitis pigmentosa in a patient with tattoo related sarcoid panuveitis
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, 2016, Volume 1, Issue 2, p. 195-205.

Challenges confronting precision medicine in the context of inherited retinal disorders
Expert Review of Precision Medicine and Drug Development, 2016, Volume 1, Issue 2, p. 195-205.

Meeting Presentations

2018 ARVO Annual Meeting
High Throughput Clinical Testing of RPGR ORF15 in Patients with Inherited Retinal Dystrophies