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R. Koenekoop · SciRah

Researcher profile · Semantic Scholar

R. Koenekoop

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R. Koenekoop — researcher profile on SciRah

h-index: 60
Works: 309
Citations: 12K

Most-cited papers

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
S. Sawyer, T. Hartley, D. Dyment, C. Beaulieu +41 more
2015Clinical Genetics380 citations Open access
Semantic Scholar
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
S. Kohl, D. Zobor, W. Chiang, N. Weisschuh +29 more
2015Nature Genetics213 citations Open access
Semantic Scholar
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
S. D. de Bruijn, A. Fiorentino, D. Ottaviani, Stephanie Fanucchi +33 more
2020American Journal of Human Genetics107 citations Open access
Semantic Scholar
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
S. Kmoch, J. Majewski, V. Ramamurthy, S. Cao +33 more
2015Nature Communications92 citations Open access
Semantic Scholar
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, L. Mizrahi‐Meissonnier, C. Ayuso +5 more
2014Journal of Medical Genetics88 citations
Semantic Scholar
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
S. Roosing, L. I. van den Born, R. Sangermano, S. Banfi +7 more
2015Ophthalmology (Rochester, Minn.)71 citations Open access
Semantic Scholar
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
H. Scholl, Anthony T. Moore, R. Koenekoop, Yuquan Wen +17 more
2015PLoS ONE66 citations Open access
Semantic Scholar
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Lori S. Sullivan, D. Koboldt, Sara J. Bowne, Steven Lang +17 more
2014Investigative Ophthalmology and Visual Science63 citations Open access
Semantic Scholar
Correlates, stability and predictors of borderline personality disorder among previously suicidal youth
B. Greenfield, M. Henry, E. Lis, Joshua Slatkoff +9 more
2015European Child and Adolescent Psychiatry58 citations
Semantic Scholar
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
M. Ajmal, M. A. Khan, K. Neveling, Y. Khan +9 more
2014Journal of Medical Genetics58 citations
Semantic Scholar
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Mingchu Xu, Takeyuki Yamada, Zi-Xi Sun, A. Eblimit +12 more
2016Human Molecular Genetics50 citations Open access
Semantic Scholar
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED
B. Leroy, D. Birch, J. Duncan, Byron L. Lam +4 more
2021Retina40 citations Open access
Semantic Scholar
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
R. Coussa, C. Chakarova, Radwan S. Ajlan, M. Taha +9 more
2015Investigative Ophthalmology and Visual Science40 citations Open access
Semantic Scholar
Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
L. Lorés-Motta, M. Riaz, M. Grunin, J. Corominas +30 more
2018JAMA ophthalmology39 citations Open access
Semantic Scholar
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Markus Burkard, S. Kohl, T. Krätzig, N. Tanimoto +30 more
2018Journal of Clinical Investigation36 citations Open access
Semantic Scholar
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance
Zachry T. Soens, J. Branch, Shijing Wu, Zhisheng Yuan +16 more
2017Human Mutation35 citations Open access
Semantic Scholar
RetiGene, a comprehensive gene atlas for inherited retinal diseases
C. Rivolta, Elifnaz Celik, D. Kamdar, Francesca Cancellieri +27 more
2025American Journal of Human Genetics34 citations Open access
Semantic Scholar
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +53 more
2019Human Mutation31 citations Open access
Semantic Scholar
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee
R. Coussa, Irma Lopez Solache, R. Koenekoop
2017Ophthalmic Genetics31 citations Open access
Semantic Scholar
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response
Nicolas Tremblay, Martin Baril, Laurent Chatel-Chaix, Salwa Es-Saad +3 more
2016PLoS Pathogens30 citations Open access
Semantic Scholar
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
M. Ibrahim, T. Alarcon-Martinez, I. Lopez, N. Fajardo +2 more
2018Scientific Reports28 citations Open access
Semantic Scholar
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
M. M. da Palma, Austin D Igelman, C. Ku, A. Burr +24 more
2021Investigative Ophthalmology and Visual Science27 citations Open access
Semantic Scholar
Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
Zachry T. Soens, Yuan-Yuan Li, Li Zhao, A. Eblimit +9 more
2015Genetics in Medicine27 citations Open access
Semantic Scholar
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman, R. Hitti-Malin, L. K. Holtes, S. D. de Bruijn +44 more
2022Frontiers in Cell and Developmental Biology26 citations Open access
Semantic Scholar
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration
M. Riaz, L. Lorés-Motta, A. Richardson, Yi Lu +17 more
2016Scientific Reports25 citations Open access
Semantic Scholar
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
A. Zhang, N. Mysore, H. Vali, Jamie Koenekoop +14 more
2015Investigative Ophthalmology and Visual Science23 citations Open access
Semantic Scholar
Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up
Mathieu Gauvin, H. Chakor, R. Koenekoop, J. Little +2 more
2016Documenta Ophthalmologica22 citations
Semantic Scholar
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.
Ji-Yun Song, Puya Aravand, S. Nikonov, L. Leo +24 more
2018Molecular Therapy20 citations Open access
Semantic Scholar
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Unikora Yang, S. Gentleman, Xiaowu Gai, M. Gorin +8 more
2019JAMA ophthalmology18 citations Open access
Semantic Scholar
Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies
C. Barnes, R. Schuchard, D. Birch, G. Dagnelie +3 more
2019Translational Vision Science & Technology18 citations Open access
Semantic Scholar
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families
V. Keser, Ayesha Khan, S. Siddiqui, I. Lopez +6 more
2017Investigative Ophthalmology and Visual Science18 citations Open access
Semantic Scholar
A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration
L. Lorés-Motta, F. van Asten, P. Muether, D. Smailhodzic +8 more
2015Pharmacogenetics & Genomics18 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Talya Millo, Antonio Rivera, A. Obolensky, Devorah Marks-Ohana +16 more
2022Genetics in Medicine15 citations Open access
Semantic Scholar
Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma
D. Geoffrion, M. Robert, A. Di Polo, R. Koenekoop +2 more
2021Investigative Ophthalmology and Visual Science15 citations Open access
Semantic Scholar
SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa
R. Matsui, David B. McGuigan, Michaela L. Gruzensky, T. Aleman +5 more
2016Ophthalmic Genetics15 citations Open access
Semantic Scholar
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
C. Yergeau, R. Coussa, F. Antaki, C. Argyriou +2 more
2023Ophthalmology (Rochester, Minn.)14 citations
Semantic Scholar
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
A. Kiang, P. Kenna, M. Humphries, Ema Ozaki +4 more
2020Genes14 citations Open access
Semantic Scholar
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
P. Kenna, M. Humphries, A. Kiang, P. Brabet +6 more
2020BMJ Open Ophthalmology14 citations Open access
Semantic Scholar
Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome
Ebba Alkhunaizi, R. Koenekoop, C. Saint-Martin, L. Russell
2019American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration
Maéva Langouët, C. Jolicoeur, Awais Javed, P. Mattar +16 more
2022Science Advances13 citations Open access
Semantic Scholar
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Ji Hoon Han, K. Rodenburg, T. Hayman, G. Calzetti +21 more
2024Genetics in Medicine12 citations Open access
Semantic Scholar
A Review of Secondary Photoreceptor Degenerations in Systemic Disease.
N. Mysore, Jamie Koenekoop, Shen Li, H. Ren +3 more
2015Cold Spring Harbor Perspectives in Medicine12 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Daniel C Brock, Meng Wang, H. M. J. Hussain, David E Rauch +15 more
2024Human Molecular Genetics11 citations Open access
Semantic Scholar
QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results
I. Audo, D. Birch, K. T. Jayasundera, I. Meunier +8 more
2022Acta ophthalmologica11 citations
Semantic Scholar
Orbital cellulitis and multiple abscess formation after strabismus surgery.
M. Mikhail, R. Koenekoop, Ayesha Khan
2016Canadian Journal of Ophthalmology-journal Canadien D Ophtalmologie11 citations Open access
Semantic Scholar
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations
G. Zou, Tao Zhang, Xuesen Cheng, Austin D Igelman +10 more
2021Molecular Vision10 citations
Semantic Scholar
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)
S. Daiger, Lori S. Sullivan, Sara J. Bowne, D. Koboldt +10 more
2016Advances in Experimental Medicine and Biology8 citations Open access
Semantic Scholar
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Shu Wen, Meng Wang, Xinye Qian, Yumei Li +14 more
2023Human Molecular Genetics7 citations Open access
Semantic Scholar

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