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null Robert Koenekoop, MD, PhD

Senior Scientist, RI-MUHC , Glen site

Child Health and Human Development Program

Centre for Translational Biology

Professor, Department of Pediatric Surgery, Faculty of Medicine and Health Sciences, McGill University

Department of Pediatric Surgery, Division of Ophthalmology, MUHC

 

Keywords


blindness • gene discovery • drug development • genotyping • gene therapy

Research Focus


My research focuses on finding new genes and pathways in childhood blindness and developing new treatments.

Selected Publications


Click on Pubmed to see my current publications list

  • Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ. Usher Syndrome Type I. 1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301442.

  • Koenekoop RK, Arriaga M, Trzupek KM, Lentz J. Usher Syndrome Type II. 1999 Dec 10 [updated 2020 Oct 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301515.

  • de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. PMID: 33022222.

  • Heon E, Koenekoop RK. Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations. Canadian Journal of Ophthalmology. 2021 Feb;56(1):e34-e35. doi: 10.1016/j.jcjo.2020.10.019. Epub 2020 Nov 19. PMID: 33220176.

  • Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genetics. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. PMID: 22842230.