RANDO L ALLIKMETS

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi request reprint Leber congenital amaurosis: a genetic paradigm
    Rando Allikmets
    Department of Ophthalmology Columbia University Eye Institute Research, Rm 715 630 West 168th Street New York, NY 10032 USA
    Ophthalmic Genet 25:67-79. 2004
  2. pmc Identification of a potential susceptibility locus for macular telangiectasia type 2
    Nancy L Parmalee
    Department of Ophthalmology, Columbia University, New York, New York, United States of America
    PLoS ONE 7:e24268. 2012
  3. pmc Analysis of candidate genes for macular telangiectasia type 2
    Nancy L Parmalee
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Mol Vis 16:2718-26. 2010
  4. ncbi request reprint Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
  5. pmc Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium
    R Allikmets
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY, 10032, USA
    Am J Hum Genet 67:487-91. 2000
  6. ncbi request reprint Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
    Jana Zernant
    Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 46:3052-9. 2005
  7. pmc G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
    Wener Cella
    Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA
    Exp Eye Res 89:16-24. 2009
  8. doi request reprint Phenotypic features of patients with NR2E3 mutations
    Sophia I Pachydaki
    Department of Ophthalmology, Columbia University, New York, New York, USA
    Arch Ophthalmol 127:71-5. 2009
  9. pmc Loss of peripapillary sparing in non-group I Stargardt disease
    Tomas R Burke
    Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA
    Exp Eye Res 91:592-600. 2010
  10. pmc Preimplantation genetic diagnosis for stargardt disease
    Mahsa A Sohrab
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Am J Ophthalmol 149:651-655.e2. 2010

Research Grants

Collaborators

Detail Information

Publications21

  1. ncbi request reprint Leber congenital amaurosis: a genetic paradigm
    Rando Allikmets
    Department of Ophthalmology Columbia University Eye Institute Research, Rm 715 630 West 168th Street New York, NY 10032 USA
    Ophthalmic Genet 25:67-79. 2004
    ....
  2. pmc Identification of a potential susceptibility locus for macular telangiectasia type 2
    Nancy L Parmalee
    Department of Ophthalmology, Columbia University, New York, New York, United States of America
    PLoS ONE 7:e24268. 2012
    ..32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees...
  3. pmc Analysis of candidate genes for macular telangiectasia type 2
    Nancy L Parmalee
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Mol Vis 16:2718-26. 2010
    ..To find the gene(s) responsible for macular telangiectasia type 2 (MacTel) by a candidate-gene screening approach...
  4. ncbi request reprint Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
    ....
  5. pmc Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium
    R Allikmets
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY, 10032, USA
    Am J Hum Genet 67:487-91. 2000
    ..0001). The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers. The identification of a gene that confers risk of AMD is an important step in unraveling this complex disorder...
  6. ncbi request reprint Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
    Jana Zernant
    Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 46:3052-9. 2005
    ..Genetically heterogeneous inheritance complicates the analyses of LCA cases, especially in patients without a family history of the disorder, and conventional methods are of limited value...
  7. pmc G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
    Wener Cella
    Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA
    Exp Eye Res 89:16-24. 2009
    ..In addition, genetic testing provides precise diagnosis of the underlying maculopathy, and current non-invasive imaging techniques could be used to detect photoreceptor damage at the earliest clinical onset of the disease...
  8. doi request reprint Phenotypic features of patients with NR2E3 mutations
    Sophia I Pachydaki
    Department of Ophthalmology, Columbia University, New York, New York, USA
    Arch Ophthalmol 127:71-5. 2009
    ..To describe the phenotypes of 5 patients with NR2E3 mutations...
  9. pmc Loss of peripapillary sparing in non-group I Stargardt disease
    Tomas R Burke
    Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA
    Exp Eye Res 91:592-600. 2010
    ..e. groups II and III. The presence of atrophy suggests a continuum of disease between groups II and III. Loss of peripapillary sparing is likely associated with the more deleterious mutations of the ABCA4 gene...
  10. pmc Preimplantation genetic diagnosis for stargardt disease
    Mahsa A Sohrab
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Am J Ophthalmol 149:651-655.e2. 2010
    ..To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy...
  11. pmc A novel mutation and phenotypes in phosphodiesterase 6 deficiency
    Stephen H Tsang
    Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, Columbia University, New York, New York, USA
    Am J Ophthalmol 146:780-8. 2008
    ..To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations...
  12. doi request reprint Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H
    Daniela C Ferrara
    LuEsther T Mertz Retinal Research Center, New York, New York, USA
    Arch Ophthalmol 126:1562-6. 2008
    ..To analyze the frequency of major age-related macular degeneration (AMD)-associated alleles in patients with multifocal choroiditis (MFC)...
  13. pmc Peripapillary atrophy in Stargardt disease
    John C Hwang
    Department of Ophthalmology, Columbia University, New York, New York 10032, USA
    Retina 29:181-6. 2009
    ..To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy...
  14. doi request reprint ATM gene variants in patients with idiopathic perifoveal telangiectasia
    Irene A Barbazetto
    Department of Ophthalmology, Columbia University, New York, New York, USA
    Invest Ophthalmol Vis Sci 49:3806-11. 2008
    ....
  15. pmc Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa
    Nan Kai Wang
    Department of Ophthalmology, Columbia University, New York City, NY, USA
    Transplantation 89:911-9. 2010
    ..To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice...
  16. pmc Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy
    Luiz H Lima
    The Vitreous, Retina, Macula Consultants of New York and the LuEsther T Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, USA
    Ophthalmology 117:1567-70. 2010
    ..To investigate the frequency of variants in 3 major age-related macular degeneration (AMD)-associated loci in patients of European-American descent with polypoidal choroidal vasculopathy (PCV)...
  17. ncbi request reprint A novel TIMP3 mutation associated with Sorsby fundus dystrophy
    Irene A Barbazetto
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Arch Ophthalmol 123:542-3. 2005
  18. ncbi request reprint Macular pigment and visual acuity in Stargardt macular dystrophy
    Xinyuan Zhang
    Department of Ophthalmology, Columbia University, New York, NY 10032, USA
    Graefes Arch Clin Exp Ophthalmol 240:802-9. 2002
    ..To test the hypothesis that macular pigment reflects foveal cone function and possibly the presence of foveal cones in recessive Stargardt macular dystrophy...
  19. pmc Multilocus analysis of age-related macular degeneration
    Julie Bergeron-Sawitzke
    SAIC Frederick, Basic Science Program, Human Genetics Section, Frederick, MD 21702 1201, USA
    Eur J Hum Genet 17:1190-9. 2009
    ..These results also support previous findings that variants in the region of 10q26 exert an independent risk for AMD...
  20. pmc Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E
    So Ra Kim
    Department of Ophthalmology, Columbia University, New York, NY 10027, USA
    Proc Natl Acad Sci U S A 101:11668-72. 2004
    ..Here we show that an amino acid variant in murine Rpe65, a visual-cycle protein required for the regeneration of 11-cis-retinal, is associated with reduced A2E accumulation...
  21. ncbi request reprint Genetics of macular dystrophies and implications for age-related macular degeneration
    Caroline C W Klaver
    Department of Ophthalmology, Columbia University, New York, N Y, USA
    Dev Ophthalmol 37:155-69. 2003
    ..Finally, we will elaborate on methods for genetic dissection of complex traits and discuss the appropriate applications of these methods for identifying genetic determinants of AMD...

Research Grants12

  1. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2001
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  2. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2009
    ..abstract_text> ..
  3. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2009
    ..abstract_text> ..
  4. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2007
    ..abstract_text> ..
  5. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2005
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  6. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2006
    ..abstract_text> ..
  7. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2005
    ..abstract_text> ..
  8. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2003
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  9. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2002
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  10. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2001
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  11. Genetic Susceptibility to Age-Related Macular Degeneration
    RANDO L ALLIKMETS; Fiscal Year: 2010
    ....