Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

door Coussa, Razek Georges, Solache, Irma Lopez, Koenekoop, Robert K.
Gepubliceerd in Ophthalmic Genet (2017)

The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration

door Murphy, Caitlin, Johnson, Aaron P., Koenekoop, Robert K., Seiple, William, Overbury, Olga
Gepubliceerd in Front Aging Neurosci (2020)

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

door Badeeb, Osama M, Micheal, Shazia, Koenekoop, Robert K, den Hollander, Anneke I, Hedrawi, Manal T
Gepubliceerd in BMC Med Genet (2014)

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

door Ebermann, Inga, Koenekoop, Robert K, Lopez, Irma, Bou-Khzam, Lara, Pigeon, Renée, Bolz, Hanno J
Gepubliceerd in 2009

A Review of Secondary Photoreceptor Degenerations in Systemic Disease

door Mysore, Naveen, Koenekoop, Jamie, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Koenekoop, Robert K.
Gepubliceerd in Cold Spring Harb Perspect Med (2015)

Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma

door Geoffrion, Dominique, Robert, Marie-Claude, Di Polo, Adriana, Koenekoop, Robert K., Agoumi, Younes, Harissi-Dagher, Mona
Gepubliceerd in Invest Ophthalmol Vis Sci (2021)

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

door Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Gepubliceerd in PLoS Pathog (2016)

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

door Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Gepubliceerd in PLoS Pathog (2017)

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

door Barnes, Claire S., Schuchard, Ronald A., Birch, David G., Dagnelie, Gislin, Wood, Leah, Koenekoop, Robert K., Bittner, Ava K.
Gepubliceerd in Transl Vis Sci Technol (2019)

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

door McEwen, Dyke P., Koenekoop, Robert K., Khanna, Hemant, Jenkins, Paul M., Lopez, Irma, Swaroop, Anand, Martens, Jeffrey R.
Gepubliceerd in 2007

Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis

door Pasadhika, Sirichai, Fishman, Gerald A., Stone, Edwin M., Lindeman, Martin, Zelkha, Ruth, Lopez, Irma, Koenekoop, Robert K., Shahidi, Mahnaz
Gepubliceerd in 2010

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

door Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.
Gepubliceerd in Invest Ophthalmol Vis Sci (2017)

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

door Kiang, Anna-Sophia, Kenna, Paul F., Humphries, Marian M., Ozaki, Ema, Koenekoop, Robert K., Campbell, Matthew, Farrar, G. Jane, Humphries, Pete
Gepubliceerd in Genes (Basel) (2020)

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

door Leroy, Bart P., Birch, David G., Duncan, Jacque L., Lam, Byron L., Koenekoop, Robert K., Porto, Fernanda B. O., Russell, Stephen R., Girach, Aniz
Gepubliceerd in Retina (2021)

SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa

door Matsui, Rodrigo, McGuigan, David B., Gruzensky, Michaela L., Aleman, Tomas S., Schwartz, Sharon B., Sumaroka, Alexander, Koenekoop, Robert K., Cideciyan, Artur V., Jacobson, Samuel G.
Gepubliceerd in Ophthalmic Genet (2016)

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

door Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Gepubliceerd in Genet Med (2016)

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

door Coussa, Razek Georges, Chakarova, Christina, Ajlan, Radwan, Taha, Mohammed, Kavalec, Conrad, Gomolin, Julius, Khan, Ayesha, Lopez, Irma, Ren, Huanan, Waseem, Naushin, Kamenarova, Kunka, Bhattacharya, Shomi S., Koenekoop, Robert K.
Gepubliceerd in Invest Ophthalmol Vis Sci (2015)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

door Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Gepubliceerd in 2012

Visual Acuity Changes in Patients with Leber Congenital Amaurosis (LCA) and Mutations in the CEP290 Gene

door McAnany, J. Jason, Genead, Mohamed A., Walia, Saloni, Drack, Arlene V., Stone, Edwin M., Koenekoop, Robert K., Traboulsi, Elias I., Smith, Alison, Weleber, Richard G., Jacobson, Samuel G., Fishman, Gerald A.
Gepubliceerd in 2013

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations

door Zou, Gang, Zhang, Tao, Cheng, Xuesen, Igelman, Austin D., Wang, Jun, Qian, Xinye, Fu, Shangyi, Wang, Keqing, Koenekoop, Robert K., Fishman, Gerald A., Yang, Paul, Li, Yumei, Pennesi, Mark E., Chen, Rui
Gepubliceerd in Mol Vis (2021)