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Genetics

D-Index
65
Citations
13727
World Ranking
2712
National Ranking
93

Overview

Robert K. Koenekoop is affiliated with McGill University Health Centre in Canada. Their research primarily covers fields within Biochemistry, Genetics and Molecular Biology as well as Medicine, with a focus on several subfields including Molecular Biology, Ophthalmology, Genetics, Radiology, Nuclear Medicine and Imaging, and Epidemiology.

The main topics of their work include:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Advanced biosensing and bioanalysis techniques
  • Ocular Disorders and Treatments
  • Glaucoma and retinal disorders
  • Genomics and Rare Diseases
  • Retinoids in leukemia and cellular processes

Robert K. Koenekoop has co-authored multiple papers with recurring collaborators such as Chris F. Inglehearn, Irma López, Paul Yang, Carlo Rivolta, and Susanne Roosing.

Their frequent publication venues indicate contributions mostly to bioRxiv (Cold Spring Harbor Laboratory), with additional papers appearing in Acta Ophthalmologica, Investigative Ophthalmology & Visual Science, Human Molecular Genetics, and The American Journal of Human Genetics.

Selected recent publications include:

  • Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa (2020), The American Journal of Human Genetics
  • LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED (2021), Retina
  • Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome (2021), Investigative Ophthalmology & Visual Science
  • Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis (2023), Frontiers in Cell and Developmental Biology
  • Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma (2021), Investigative Ophthalmology & Visual Science

Best Publications

  • Leber congenital amaurosis: genes, proteins and disease mechanisms.

    Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers

  • Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

    Anneke I. den Hollander;Robert K. Koenekoop;Suzanne Yzer;Irma Lopez

  • Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

    Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  • An overview of Leber congenital amaurosis: a model to understand human retinal development.

    Robert K Koenekoop

  • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

    Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  • PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

    Inga Ebermann;Jennifer B. Phillips;Max C. Liebau;Robert K. Koenekoop

  • Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

    Feng Wang;Hui Wang;Han Fang Tuan;Duy H. Nguyen

  • CRB1 mutation spectrum in inherited retinal dystrophies.

    Anneke I. den Hollander;Jason Davis;Saskia D. van der Velde-Visser;Marijke N. Zonneveld

  • Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

    Alberta A.H.J. Thiadens;Alberta A.H.J. Thiadens;Anneke I. den Hollander;Anneke I. den Hollander;Susanne Roosing;Sander B. Nabuurs

  • Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

    Anneke I den Hollander;Robert K Koenekoop;Moin D Mohamed;Moin D Mohamed;Heleen H Arts

  • Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Susanne Kohl;Ditta Zobor;Wei-Chieh Chiang;Nicole Weisschuh

  • AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Carrie M. Louie;Gianluca Caridi;Vanda S. Lopes;Vanda S. Lopes;Francesco Brancati

  • Prevalence of AIPL1 mutations in inherited retinal degenerative disease

    Melanie M. Sohocki;Isabelle Perrault;Bart P. Leroy;Bart P. Leroy;Annette M. Payne

  • Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

    Robert K Koenekoop;Hui Wang;Jacek Majewski;Xia Wang

  • Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

    Jana Zernant;Maigi Külm;Sharola Dharmaraj;Anneke I den Hollander

  • Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

    Rob W.J. Collin;Karin W. Littink;B. Jeroen Klevering;L. Ingeborgh van den Born

  • Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

    Dyke P. McEwen;Robert K. Koenekoop;Hemant Khanna;Paul M. Jenkins

  • Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

    Xia Wang;Hui Wang;Hui Wang;Vincent Sun;Han Fang Tuan

Frequent Co-Authors

Anneke I. den Hollander
Anneke I. den Hollander Radboud University
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Rui Chen
Rui Chen Capital Medical University
Carel B. Hoyng
Carel B. Hoyng Radboud University
Irene H. Maumenee
Irene H. Maumenee University of Illinois at Chicago
Gerald A. Fishman
Gerald A. Fishman University of Illinois at Chicago
Anand Swaroop
Anand Swaroop National Institutes of Health
Shomi S. Bhattacharya
Shomi S. Bhattacharya University College London
Rob W.J. Collin
Rob W.J. Collin Radboud University
Hui Wang
Hui Wang Salk Institute for Biological Studies

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