Robert Karel Koenekoop

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi Visual improvement in Leber congenital amaurosis and the CRX genotype
    Robert K Koenekoop
    The Children s Vision Center, Montreal Children s Hospital and Research Institute, McGill University, Montreal, PQ, Canada
    Ophthalmic Genet 23:49-59. 2002
  2. ncbi Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
    Arch Ophthalmol 120:1325-30. 2002
  3. ncbi Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
    Am J Ophthalmol 136:678-87. 2003
  4. ncbi Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child
    Tuong Nam Nguyen
    Children s Vision Centre, McGill University Health Centre, Montreal, Que
    Can J Ophthalmol 40:195-9. 2005
  5. ncbi Evaluation of genotype-phenotype associations in leber congenital amaurosis
    Jennifer A Galvin
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Retina 25:919-29. 2005
  6. pmc Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Genome Biol 8:R47. 2007
  7. ncbi Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Canada
    Ophthalmic Genet 28:185-6. 2007
  8. ncbi Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
    Clin Experiment Ophthalmol 35:473-85. 2007
  9. ncbi RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University Health Center, Montreal, Canada
    Ophthalmic Genet 26:175-9. 2005
  10. ncbi CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis
    Suzanne Yzer
    McGill Ocular Genetics Centre, Division of Ophthalmology, Montreal, Quebec, Canada
    Invest Ophthalmol Vis Sci 47:3736-44. 2006

Collaborators

Detail Information

Publications36

  1. ncbi Visual improvement in Leber congenital amaurosis and the CRX genotype
    Robert K Koenekoop
    The Children s Vision Center, Montreal Children s Hospital and Research Institute, McGill University, Montreal, PQ, Canada
    Ophthalmic Genet 23:49-59. 2002
    ..We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years...
  2. ncbi Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
    Arch Ophthalmol 120:1325-30. 2002
    ..In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific, giving major significance to rapid gene identification and gene-phenotype studies...
  3. ncbi Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
    Am J Ophthalmol 136:678-87. 2003
    ..To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP phenotypes...
  4. ncbi Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child
    Tuong Nam Nguyen
    Children s Vision Centre, McGill University Health Centre, Montreal, Que
    Can J Ophthalmol 40:195-9. 2005
  5. ncbi Evaluation of genotype-phenotype associations in leber congenital amaurosis
    Jennifer A Galvin
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Retina 25:919-29. 2005
    ..To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA)...
  6. pmc Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Genome Biol 8:R47. 2007
    ..We hypothesized that founder mutations in USH1 genes exist in this population...
  7. ncbi Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Canada
    Ophthalmic Genet 28:185-6. 2007
  8. ncbi Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
    Clin Experiment Ophthalmol 35:473-85. 2007
    ..Genetic testing will then become standard practice to complement the ophthalmic evaluation...
  9. ncbi RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University Health Center, Montreal, Canada
    Ophthalmic Genet 26:175-9. 2005
    ..Thus far RPGRIP1 appears to be only mutated in LCA and is associated with 6% of LCA in two series. The purpose of this review is to highlight recent advances in our understanding of RPGRIP1 function in normal and diseased retinas...
  10. ncbi CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis
    Suzanne Yzer
    McGill Ocular Genetics Centre, Division of Ophthalmology, Montreal, Quebec, Canada
    Invest Ophthalmol Vis Sci 47:3736-44. 2006
    ....
  11. ncbi A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene
    Ana Luisa Pina
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University, Montreal, PQ, Canada
    Mol Vis 10:265-71. 2004
    ..In this study we tested the hypothesis that mutations in GNAT2 cause cone-rod degeneration (CRD)...
  12. ncbi Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65
    Robert K Koenekoop
    Department of Ophthalmology, McGill University, Montreal Children s Hospital, Montreal, Quebec, Canada
    Ophthalmic Genet 24:125-6. 2003
  13. ncbi An overview of Leber congenital amaurosis: a model to understand human retinal development
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University Health Center, Montreal, Quebec, Canada
    Surv Ophthalmol 49:379-98. 2004
    ..Gene therapy for RPE65 deficient dogs partially restored sight, and provides the first real hope of treatment for this devastating blinding condition...
  14. ncbi The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application
    Marianne Rufiange
    Department of Ophthalmology D 164, McGill University, Montreal Children s Hospital Research Institute, 2300 Tupper Street, Que, H3H 1P3, Montreal, Canada
    Vision Res 43:1405-12. 2003
    ..The clinical usefulness of these parameters is illustrated with selected cases of retinal disorders...
  15. ncbi The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review
    Robert K Koenekoop
    Department of Ophthalmology, McGill University, Montreal Children s Hospital, 2300 Tupper, Montreal, Quebec H3H 1P3, Canada
    Ophthalmic Genet 24:75-80. 2003
    ..These hypotheses were tested by Radu and colleagues in the mouse and shown to be efficacious...
  16. doi Optimal compliance for amblyopia therapy: occlusion with a translucent tape on the lens
    Raquel G Beneish
    Children s Vision Centre, Montreal Children s Hospital, Montreal, Que
    Can J Ophthalmol 44:523-8. 2009
    ..To demonstrate that optimal compliance to amblyopia therapy and a better visual outcome can be achieved by occluding the lens over the preferred eye with a translucent tape...
  17. doi Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophies
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, McGill University, Montreal, Canada
    Ophthalmic Genet 32:126-8. 2011
    ....
  18. doi Why do cone photoreceptors die in rod-specific forms of retinal degenerations?
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, McGill University Health Center, Montreal, Quebec, Canada
    Ophthalmic Genet 30:152-4. 2009
    ..determined that cone death is due to nutritional deficiencies, starration, and autophagy driven by the insulin/mTOR pathway. These novel and exciting seights also provide alternative avenues for therapeutic interventions for cone rescue...
  19. ncbi Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform
    Md Nawajes A Mandal
    Department of Ophthalmology and Visual Sciences, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Invest Ophthalmol Vis Sci 46:3355-62. 2005
    ..To develop and apply microarray-based resequencing technology to detect sequence alterations in multiple autosomal recessive retinal disease genes on a single high-throughput platform...
  20. ncbi Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects
    Chandra L Tucker
    Department of Biochemistry, University of Washington, Seattle, WA, USA
    Mol Vis 10:297-303. 2004
    ..The mutations investigated in this study map to the catalytic domain (P858S, L954P) and the extracellular domain (C105Y, L325P) of RetGC-1...
  21. doi Successful RPE65 gene replacement and improved visual function in humans
    Robert K Koenekoop
    Ophthalmic Genet 29:89-91. 2008
    ..These spectacular results will now stimulate further investigations of younger patients, higher dosages, and clinically or genetically related retinal disorders...
  22. doi Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke I den Hollander
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Prog Retin Eye Res 27:391-419. 2008
    ....
  23. ncbi Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 48:5690-8. 2007
    ..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes...
  24. pmc Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
    Christina F Chakarova
    Institute of Ophthalmology, University College London, London, UK
    Am J Hum Genet 81:1098-103. 2007
    ....
  25. ncbi The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
    Sharola Dharmaraj
    Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287 9237, USA
    Arch Ophthalmol 122:1029-37. 2004
    ..To describe the electroretinogram (ERG) in heterozygote carriers...
  26. ncbi Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease
    Suzanne Yzer
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Mol Vis 13:1568-72. 2007
    ..To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes...
  27. pmc Development of a genotyping microarray for Usher syndrome
    Frans P M Cremers
    Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 44:153-60. 2007
    ..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons...
  28. ncbi 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...
  29. ncbi Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis
    José A J M van den Hurk
    Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands
    Mol Vis 11:263-73. 2005
    ..3 and 19p13.3. The purpose of this study was to characterize the Crumbs homolog 2 (CRB2) gene on 9q33.3, to analyze its expression pattern, and to determine whether mutations in CRB2 are associated with RP and LCA...
  30. ncbi Clinical phenotypes in carriers of Leber congenital amaurosis mutations
    Jennifer A Galvin
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Ophthalmology 112:349-56. 2005
    ..To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital amaurosis (LCA)...
  31. ncbi Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 39:889-95. 2007
    ..Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA...
  32. pmc Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
    Dyke P McEwen
    Department of Pharmacology, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 104:15917-22. 2007
    ..The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases...
  33. pmc Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:556-61. 2006
    ..CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far...
  34. ncbi Leber congenital amaurosis: ciliary proteins on the move
    Robert K Koenekoop
    Ophthalmic Genet 28:111-2. 2007
  35. ncbi A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
    Myrto Papaioannou
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11 43 Bath Street, London, EC1V 9EL, UK
    Hum Genet 118:501-3. 2005
    ..3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13...
  36. ncbi CRB1 mutation spectrum in inherited retinal dystrophies
    Anneke I den Hollander
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Mutat 24:355-69. 2004
    ..In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations...