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Robert Koenekoop, MD, PhD

Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Professor, Department of Pediatric Surgery, Division of Ophtalmology, Faculty of Medicine, McGill University

 

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

  • Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. PMID: 26029869.

  • Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. PMID: 25629076.

  • Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK. Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614 PMID: 25574898.

  • Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA. Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13. PMID: 25030840.

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM. Clin Genet. 2015 Aug 18. doi: 10.1111/cge.12654. [Epub ahead of print] PMID: 26283276.