CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

Por Badeeb, Osama M, Micheal, Shazia, Koenekoop, Robert K, den Hollander, Anneke I, Hedrawi, Manal T
Publicado no 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

Por Ebermann, Inga, Koenekoop, Robert K, Lopez, Irma, Bou-Khzam, Lara, Pigeon, Renée, Bolz, Hanno J
Publicado em 2009

A Review of Secondary Photoreceptor Degenerations in Systemic Disease

Por Mysore, Naveen, Koenekoop, Jamie, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Koenekoop, Robert K.
Publicado no Cold Spring Harb Perspect Med (2015)

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

Por Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Publicado no PLoS Pathog (2016)

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

Por Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Publicado no PLoS Pathog (2017)

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

Por McEwen, Dyke P., Koenekoop, Robert K., Khanna, Hemant, Jenkins, Paul M., Lopez, Irma, Swaroop, Anand, Martens, Jeffrey R.
Publicado em 2007

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

Por Pasadhika, Sirichai, Fishman, Gerald A., Stone, Edwin M., Lindeman, Martin, Zelkha, Ruth, Lopez, Irma, Koenekoop, Robert K., Shahidi, Mahnaz
Publicado em 2010

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

Por Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.
Publicado no Invest Ophthalmol Vis Sci (2017)

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

Por 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.
Publicado no Ophthalmic Genet (2016)

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

Por 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
Publicado no Genet Med (2016)

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

Por 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.
Publicado no Invest Ophthalmol Vis Sci (2015)

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

Por 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
Publicado em 2012

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

Por 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.
Publicado em 2013

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Por Xu, Mingchu, Yamada, Takeyuki, Sun, Zixi, Eblimit, Aiden, Lopez, Irma, Wang, Feng, Manya, Hiroshi, Xu, Shan, Zhao, Li, Li, Yumei, Kimchi, Adva, Sharon, Dror, Sui, Ruifang, Endo, Tamao, Koenekoop, Robert K., Chen, Rui
Publicado no Hum Mol Genet (2016)

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

Por Lorés-Motta, Laura, van Asten, Freekje, Muether, Philipp S., Smailhodzic, Dzenita, Groenewoud, Joannes M., Omar, Amer, Chen, John, Koenekoop, Robert K., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke I., de Jong, Eiko K.
Publicado no Pharmacogenet Genomics (2016)

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Por Wang, Hui, den Hollander, Anneke I., Moayedi, Yalda, Abulimiti, Abuduaini, Li, Yumei, Collin, Rob W.J., Hoyng, Carel B., Lopez, Irma, Bray, Molly, Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Koenekoop, Robert K., Chen, Rui
Publicado em 2009

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Por Fu, Qing, Wang, Feng, Wang, Hui, Xu, Fei, Zaneveld, Jacques E., Ren, Huanan, Keser, Vafa, Lopez, Irma, Tuan, Han-Fang, Salvo, Jason S., Wang, Xia, Zhao, Li, Wang, Keqing, Li, Yumei, Koenekoop, Robert K., Chen, Rui, Sui, Ruifang
Publicado em 2013

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Por Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.
Publicado em 2008

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Por Burke, Tomas R., Fishman, Gerald A., Zernant, Jana, Schubert, Carl, Tsang, Stephen H., Smith, R. Theodore, Ayyagari, Radha, Koenekoop, Robert K., Umfress, Allison, Ciccarelli, Maria Laura, Baldi, Alfonso, Iannaccone, Alessandro, Cremers, Frans P. M., Klaver, Caroline C. W., Allikmets, Rando
Publicado em 2012

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado no Mol Genet Genomic Med (2015)