Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement … A Rivera, SA Fisher, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, ... Human molecular genetics 14 (21), 3227-3236, 2005 | 954 | 2005 |
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA LG Fritsche, T Loenhardt, A Janssen, SA Fisher, A Rivera, CN Keilhauer, ... Nature genetics 40 (7), 892-896, 2008 | 484 | 2008 |
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease) WBH Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A Human Molecular Genetic, 1998 | 421 | 1998 |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration A Rivera, K White, H Stöhr, K Steiner, N Hemmrich, T Grimm, B Jurklies, ... The American Journal of Human Genetics 67 (4), 800-813, 2000 | 398 | 2000 |
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular … F Krämer, K White, D Pauleikhoff, A Gehrig, L Passmore, A Rivera, ... European Journal of Human Genetics 8 (4), 286-292, 2000 | 273 | 2000 |
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells A Milenkovic, C Brandl, VM Milenkovic, T Jendryke, L Sirianant, ... Proceedings of the National Academy of Sciences 112 (20), E2630-E2639, 2015 | 137 | 2015 |
In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC) C Brandl, SJ Zimmermann, VM Milenkovic, SMG Rosendahl, ... Neuromolecular medicine 16, 551-564, 2014 | 119 | 2014 |
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane VM Milenkovic, A Rivera, F Horling, BHF Weber Journal of biological chemistry 282 (2), 1313-1321, 2007 | 107 | 2007 |
Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate SA Fisher, A Rivera, LG Fritsche, G Babadjanova, S Petrov, BHF Weber British Journal of Ophthalmology 91 (5), 576-578, 2007 | 52 | 2007 |
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal … A Milenkovic, VM Milenkovic, CH Wetzel, BHF Weber Human molecular genetics 27 (9), 1630-1641, 2018 | 44 | 2018 |
Case–control genetic association study of fibulin‐6 (FBLN6 or HMCN1) variants in age‐related macular degeneration (AMD) SA Fisher, A Rivera, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, ... Human mutation 28 (4), 406-413, 2007 | 44 | 2007 |
A gene map of the Best’s vitelliform macular dystrophy region in chromosome 11q12–q13. 1 H Stöhr, A Marquardt, A Rivera, PR Cooper, NJ Nowak, TB Shows, ... Genome research 8 (1), 48-56, 1998 | 42 | 1998 |
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD) F Grassmann, U Friedrich, S Fauser, T Schick, A Milenkovic, HL Schulz, ... Neuromolecular medicine 17, 111-120, 2015 | 39 | 2015 |
Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und retinitis pigmentosa (STGD1/RP19) G Rudolph, P Kalpadakis, C Haritoglou, A Rivera, BHF Weber Klinische Monatsblätter für Augenheilkunde 219 (08), 590-596, 2002 | 32 | 2002 |
Mutation-dependent pathomechanisms determine the phenotype in the bestrophinopathies AL Nachtigal, A Milenkovic, C Brandl, HL Schulz, LMJ Duerr, GE Lang, ... International journal of molecular sciences 21 (5), 1597, 2020 | 29 | 2020 |
The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy A Milenkovic, D Schmied, N Tanimoto, MW Seeliger, JR Sparrow, ... Biology open 8 (7), bio041335, 2019 | 11 | 2019 |
Retinal organoid differentiation methods determine organoid cellular composition P Berber, A Milenkovic, L Michaelis, BHF Weber J. Transl. Genet. Genom 5, 292-303, 2021 | 10 | 2021 |
Bestrophin1 is the volume-regulated anion channel in mouse sperm and human retinal pigment epithelium A Milenkovic, C Brandl, VM Milenkovic, T Jendrike, L Sirianant, ... Proc Natl Acad Sci USA 112, E2630-E2639, 2015 | 8 | 2015 |
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13. 1 and its exclusion in Best's vitelliform macular dystrophy H Stöhr, A Marquardt, A Rivera, U Kellner, BHF Weber European Journal of Human Genetics 6 (4), 400-405, 1998 | 6 | 1998 |
Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies A Milenkovic, C Brandl, AL Nachtigal, U Kellner, BHF Weber Klinische Monatsblatter fur Augenheilkunde 237 (3), 259-266, 2020 | 5 | 2020 |