This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses and email address may be missing. Find their university profile.
Research
Latest papers
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.
Human mutation · 2026
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.
Investigative ophthalmology & visual science · 2025
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
The British journal of ophthalmology · 2025
Latest funding
- $1,137,500
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
CIHR · 2024 · Principal investigator
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
CIHR · 2023 · Principal investigator
- $1,503,225
Enabling commercialization of retinal gene therapy for Zellweger Spectrum Disorder
CIHR · 2022 · Co-investigator
8 publications.
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.
Rauch DE, Wang M, Hafiz MJH, Brock DC, Li Y, Marra M, Pennesi ME, Yang P, Lesley E, Lopez I, Koenekoop R, Collantes ER, Bolinao J, Chen R
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XT, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, McLaren TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, Roberts L, Ramesar R, Strupaite-Šileikiene R, Kohl S, Farrar GJ, van Vugt M, van Setten J, Roosing S, van den Born LI, Boon CJF, van Genderen MM, Kuiper JJW
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy.
Kenna PF, Humphries MM, Kiang AS, Brabet P, Guillou L, Ozaki E, Campbell M, Farrar GJ, Koenekoop R, Humphries P
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Benson, Matthew D
Keywords: Aav Manufacturing; Cta Enabling Studies; Mouse Safety Studies; Peroxisome Disorder; Retinal Gene Therapy
Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Benson, Matthew D
Keywords: Aav Manufacturing; Cta Enabling Studies; Mouse Safety Studies; Peroxisome Disorder; Retinal Gene Therapy
Enabling commercialization of retinal gene therapy for Zellweger Spectrum Disorder
Principal investigators: Braverman, Nancy E
Keywords: Clinlcal Outcome Measures; Cta Enabling Studies; Mouse Bodistribution; Mouse Toxicity; Peroxisome Disorder; Prospective Natural History Study; Retinal Gene Therapy
Getting Ready for Vision Therapy in Peroxisome Biogenesis Disorders
Principal investigators: Braverman, Nancy E; Koenekoop, Robert K; Lachapelle, Pierre
Keywords: Clinical Trial Endpoints; Drug Treatment; Mouse Models; Natural History Studies; Orphan Diseases; Peroxisome Diseases; Peroxisome Metabolic Pathways; Retinal Degeneration
Diagnosis, prognosis and classification of retinopathies: Comparing time-amplitude domain (TAD) with time-frequency domain (TFD) analyses of the electroretinogram.
Principal investigators: Lachapelle, Pierre
Keywords: Animal Models; Electroretinogram; Erg Model; Human; Mathematical Models; Residual Vision; Retinopathy; Time-Scale Analysis; Visiual Function
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Human Genetics
- Psychology
- Psychiatry
- Other
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