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Mark Consugar

Massachusetts Eye and Ear Infirmary

22

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Abstract 3544: High performance multiplexed targeted enrichment sequencing from FFPE tissues

2019 Cancer Research
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Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy

2017 Vision Research
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Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes

2016 Molecular Vision
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Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing

2015 Genetics in Medicine
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Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

2015 Human Molecular Genetics
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Test de diagnostic génétique sur panel pour maladies oculaires héréditaires

2015
- Eric A. Pierce
- Mark Consugar
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Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

2015 PLOS ONE
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FOXF2 mutations in patients with early-onset glaucoma

2015 Investigative Ophthalmology & Visual Science
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Targeted Exon Sequencing in Usher Syndrome Type I

2014 Investigative Ophthalmology & Visual Science
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Genetic Heterogeneity Among Patients with Pericentral Retinitis Pigmentosa

2013 Investigative Ophthalmology & Visual Science
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