Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly A Kumar, SC Girimaji, MR Duvvari, SH Blanton The American Journal of Human Genetics 84 (2), 286-290, 2009 | 298 | 2009 |
A functional variant in the CFI gene confers a high risk of age-related macular degeneration JPH Van De Ven, SC Nilsson, PL Tan, GHS Buitendijk, T Ristau, ... Nature genetics 45 (7), 813-817, 2013 | 210 | 2013 |
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration H Helgason, P Sulem, MR Duvvari, H Luo, G Thorleifsson, H Stefansson, ... Nature genetics 45 (11), 1371-1374, 2013 | 161 | 2013 |
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari, ... Clinical genetics 80 (6), 532-540, 2011 | 88 | 2011 |
A homozygous mutation in LTBP2 causes isolated microspherophakia A Kumar, MR Duvvari, VC Prabhakaran, JS Shetty, GJ Murthy, SH Blanton Human genetics 128, 365-371, 2010 | 82 | 2010 |
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration MR Duvvari, CC Paun, GHS Buitendijk, NTM Saksens, EB Volokhina, ... PloS one 9 (4), e94165, 2014 | 45 | 2014 |
Whole exome sequencing in patients with the cuticular drusen subtype of age-related macular degeneration MR Duvvari, JPH van de Ven, MJ Geerlings, NTM Saksens, B Bakker, ... PLoS One 11 (3), e0152047, 2016 | 37 | 2016 |
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration MR Duvvari, NTM Saksens, JPH van de Ven, Y de Jong-Hesse, T Schick, ... Molecular vision 21, 285, 2015 | 27 | 2015 |
Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families M Madhangi, D Dutta, S Show, VK Bhat, MI Rather, A Tiwari, N Singh, ... Human Molecular Genetics 30 (6), 467-484, 2021 | | 2021 |
Novel CFH variants in patients with age-related macular degeneration M Duvvari, J van de Ven, E Volokhina, N Saksens, C Boon, L Hoefsloot, ... Investigative Ophthalmology & Visual Science 54 (15), 6176-6176, 2013 | | 2013 |