Arijit Mukhopadhyay

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen et al. · The American Journal of Human Genetics · 2010 · 231 citations · Full text

Mendelian Disorder, Familial Exudative Vitreoretinopathy, Genetic Disorder +8

L1 retrotransposition can occur early in human embryonic development

José A. J. M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme et al. · Human Molecular Genetics · 2007 · 187 citations · Full text

<i>EGLN1</i> involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda

Shilpi Aggarwal, Sapna Negi, Pankaj Jha et al. · Proceedings of the National Academy of Sciences · 2010 · 170 citations · Full text

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin et al. · Human Mutation · 2010 · 148 citations · Full text

Myocilin gene implicated in primary congenital glaucoma

Kiranpreet Kaur, Arijit Mukhopadhyay, AK Mandal et al. · Clinical Genetics · 2005 · 120 citations