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
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
American Journal of Medical Genetics, 2020, Published online ahead of print publication on 08.28.20.
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy
Ophthalmic Genetics, 2020, Volume 41, Issue 4, p. 386-389.
Correspondence to Genetics in Medicine “Response to Cody”
Genetics in Medicine, 2020, Volume 22, p. 236-237.
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles
Genetics in Medicine, 2019, Volume 21, p. 1280-1282.
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, p. 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.
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
2019 ARVO Annual Meeting
Improving diagnostic yield in a large inherited retinal dystrophy cohort with high-throughput, NGS-based CNV calling — a clinical evaluation of detection criteria and limitations
2018 ARVO Annual Meeting
High throughput clinical testing of RPGR ORF15 in patients with inherited retinal dystrophies
