Dimitar N. Azmanov

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

Mendelian Disorder, Ophthalmology, Null Mutations +4

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson et al. · Journal of Clinical Investigation · 2016 · 286 citations · Full text

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson et al. · Journal of Clinical Investigation · 2017 · 196 citations · Full text

Ocular Disease, Schlemm ’, Cellular Physiology +18

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva et al. · The American Journal of Human Genetics · 2012 · 98 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7