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1

Correlates, stability and predictors of borderline personality disorder among previously suicidal youth

Greenfield, Brian, Henry, Melissa, Lis, Eric, Slatkoff, Josh, Guilé, Jean-Marc, Dougherty, Geoffrey, Zhang, Xun, Raz, Amir, Eugene Arnold, L., Daniel, Londa, Mishara, Brian L., Koenekoop, Robert K., d

Journal:

European Child & Adolescent Psychiatry

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

2

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

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

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 537 KB

english, 2008

3

Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype

Karin W. Littink, L. Ingeborgh van den Born, Robert K. Koenekoop, Rob W.J. Collin, Marijke N. Zonneveld, Ellen A.W. Blokland, Hayat Khan, Thomas Theelen, Carel B. Hoyng, Frans P.M. Cremers, Anneke I.

Journal:

Year:

2010

Language:

english

File:

PDF, 2.18 MB

english, 2010

4

Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications

Garon, M.-L., Dorfman, A. L., Racine, J., Koenekoop, R. K., Little, J. M., Lachapelle, P.

Journal:

Documenta Ophthalmologica

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

5

EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS

GALVIN, JENNIFER A., FISHMAN, GERALD A., STONE, EDWIN M., KOENEKOOP, ROBERT K.

Journal:

Year:

2005

Language:

english

File:

PDF, 1.08 MB

english, 2005

6

Identification of the Optimal Ontogenetic Stage for Successful Stem-Cell Integration into Degenerating Retina

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 36 KB

english, 2007

7

Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Melanie M. Sohocki, Isabelle Perrault, Bart P. Leroy, Annette M. Payne, Sharola Dharmaraj, Shomi S. Bhattacharya, Josseline Kaplan, Irene H. Maumenee, Robert Koenekoop, Françoise M. Meire, David G. Bi

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 273 KB

english, 2000

8

Vitamin D Reduces Colitis- and Inflammation-Associated Colorectal Cancer in Mice Independent of NOD2

Elimrani, Ihsan, Koenekoop, Jamie, Dionne, Serge, Marcil, Valerie, Delvin, Edgar, Levy, Emile, Seidman, Ernest G.

Journal:

Nutrition and Cancer

Year:

2017

Language:

english

File:

PDF, 948 KB

english, 2017

9

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

John B. Kerrison, Véronique J. Arnould, M.Michael Barmada, Robert K. Koenekoop, Barbara J. Schmeckpeper, Irene H. Maumenee

Journal:

Year:

1996

Language:

english

File:

PDF, 99 KB

english, 1996

10

Mutational analysis and clinical correlation in Leber congenital amaurosis

Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 235 KB

english, 2000

11

Transient exotropia after posterior spinal fusion in a child: A new case

J. Choremisa, V. Arlet, K. Brown, M. Bashour, M. Young, P. Dube, R. Koenekoop

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

12

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p

Damji, Karim F., Sohocki, Melanie M., Khan, Ravesh, Gupta, Sanjoy K., Rahim, Musa, Loyer, Magali, Hussein, Naushad, Karim, Nermin, Ladak, Shenif S., Jamal, Alnoor, Bulman, Dennis, Koenekoop, Robert K.

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2001

Language:

english

File:

PDF, 968 KB

english, 2001

13

The major gene for Bardet-Biedl syndrome is BBS1

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2003

Language:

english

File:

PDF, 36 KB

english, 2003

14

Author reply

Journal:

American Journal of Ophthalmology

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

15

The effects of the age of onset of strabismus on monocular and binocular visual function in genetically identical twins

Cadet, Nicolas, Huang, Pi-Chun, Superstein, Rosanne, Koenekoop, Robert, Hess, Robert F.

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2018

Language:

english

File:

PDF, 648 KB

english, 2018

16

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

Robert K Koenekoop, Magali Loyer, Collette K Hand, Huda Al Mahdi, Olga Dembinska, Raquel Beneish, Julie Racine, Guy A Rouleau

Journal:

American Journal of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 716 KB

english, 2003

17

Visual improvement in Leber congenital amaurosis and the CRX genotype

Koenekoop, Robert K., Loyer, Magali, Dembinska, Olga, Beneish, Raquel

Journal:

Ophthalmic Genetics

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

18

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

Coussa, Razek Georges, Lopez Solache, Irma, Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 970 KB

english, 2017

19

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

Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 781 KB

english, 2017

20

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete

Journal:

BMJ Open Ophthalmology

Year:

2020

File:

PDF, 938 KB

2020

21

Reply to letter to the editor by Willatt—“Partial trisomy of 2p and neuroblastoma”

Muna Al-Saffar, Emmanuelle Lemyre, Robert Koenekoop, Alessandra M.V. Duncan, Vazken M. Der Kaloustian

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 30 KB

english, 2001

22

Choroideremia is Caused by a Defective Phagocytosis by the RPE of Photoreceptor Disc Membranes, not by an Intrinsic Photoreceptor Defect

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

23

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

McEwen, D. P., Koenekoop, R. K., Khanna, H., Jenkins, P. M., Lopez, I., Swaroop, A., Martens, J. R.

Journal:

Proceedings of the National Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 887 KB

english, 2007

24

Clinician's Corner

Nischal, Kenneth K., Koenekoop, Robert

Journal:

Techniques in Ophthalmology

Year:

2003

Language:

english

File:

PDF, 894 KB

english, 2003

25

Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

Gauvin, Mathieu, Chakor, Hadi, Koenekoop, Robert K., Little, John M., Lina, Jean-Marc, Lachapelle, Pierre

Journal:

Documenta Ophthalmologica

Year:

2016

Language:

english

File:

PDF, 289 KB

english, 2016

26

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Chakarova, C. F., Khanna, H., Shah, A. Z., Patil, S. B., Sedmak, T., Murga-Zamalloa, C. A., Papaioannou, M. G., Nagel-Wolfrum, K., Lopez, I., Munro, P., Cheetham, M., Koenekoop, R. K., Rios, R. M., Ma

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 662 KB

english, 2011

27

Retinal Architecture, Retinal Function and Extracellular Protein of Retinoschisis Mouse Model Are Rescued by Gene Therapy

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 35 KB

english, 2006

28

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

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,

Journal:

Pharmacogenetics and Genomics

Year:

2016

Language:

english

File:

PDF, 253 KB

english, 2016

29

Orbital cellulitis and multiple abscess formation after strabismus surgery

Mikhail, Mikel, Koenekoop, Robert K., Khan, Ayesha

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2016

Language:

english

File:

PDF, 279 KB

english, 2016

30

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

Ibrahim, M. T., Alarcon-Martinez, T., Lopez, I., Fajardo, N., Chiang, J., Koenekoop, R. K.

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 3.09 MB

english, 2018

31

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

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

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 599 KB

english, 2010

32

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

Myrto Papaioannou, Christina F. Chakarova, De Quincy C. Prescott, Naushin Waseem, Thorsten Theis, Irma Lopez, Bhavdip Gill, Robert K. Koenekoop, Shomi S. Bhattacharya

Journal:

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

33

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

Robert K Koenekoop, Irma Lopez, Anneke I Den Hollander, Rando Allikmets, Frans PM Cremers

Journal:

Clinical & Experimental Ophthalmology

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

34

Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis

Traboulsi, Elias I., Koenekoop, Robert, Stone, Edwin M.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 358 KB

english, 2006

35

Abstracts

Koenekoop, Robert

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 50 KB

english, 2004

36

Ocular Findings in a Family With Sotos Syndrome (Cerebral Gigantism)

Koenekoop, Robert K., Rosenbaum, Kenneth N., Traboulsi, Elias I.

Journal:

American Journal of Ophthalmology

Year:

1995

Language:

english

File:

PDF, 374 KB

english, 1995

37

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 1.38 MB

english, 2010

38

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

Barnes, Claire S., Schuchard, Ronald A., Birch, David G., Dagnelie, Gislin, Wood, Leah, Koenekoop, Robert K., Bittner, Ava K.

Journal:

Translational Vision Science & Technology

Year:

2019

Language:

english

File:

PDF, 1.37 MB

english, 2019

39

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

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

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

40

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Roosing, Susanne, van den Born, L. Ingeborgh, Sangermano, Riccardo, Banfi, Sandro, Koenekoop, Robert K., Zonneveld-Vrieling, Marijke N., Klaver, Caroline C.W., van Lith-Verhoeven, Janneke J.C., Cremer

Journal:

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

41

Why do Cone Photoreceptors Die in Rod-Specific Forms of Retinal Degenerations?

Koenekoop, Robert K.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

42

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

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, Robe

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

43

Cannibalism among Aedes triseriatus larvae

KOENEKOOP, ROBERT K., LIVDAHL, TODD P.

Journal:

Ecological Entomology

Year:

1986

Language:

english

File:

PDF, 301 KB

english, 1986

44

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

Riaz, Moeen, Lorés-Motta, Laura, Richardson, Andrea J., Lu, Yi, Montgomery, Grant, Omar, Amer, Koenekoop, Robert K., Chen, John, Muether, Philipp, Altay, Lebriz, Schick, Tina, Fauser, Sascha, Smailhod

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 579 KB

english, 2016

45

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Zhang, Alice Yang, Mysore, Naveen, Vali, Hojatollah, Koenekoop, Jamie, Cao, Sang Ni, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Siddiqui, Sorath Noorani, Khan, Ayesha, Mui, Jeannie, Sear

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 3.17 MB

english, 2015

46

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

Yang, Unikora, Gentleman, Susan, Gai, Xiaowu, Gorin, Michael B., Borchert, Mark S., Lee, Thomas C., Villanueva, Adda, Koenekoop, Robert, Maguire, Albert M., Bennett, Jean, Redmond, T. Michael, Nagiel,

Journal:

JAMA Ophthalmology

Year:

2019

Language:

english

File:

PDF, 1.07 MB

english, 2019

47

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 698 KB

english, 2012

48

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Roosing, Susanne, van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., de Baere, Elfride, Collin, Rob W.J., Koenekoop, Robert K., Leroy, Bart P., van Moll-Ramirez, Norka, Venselaar,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.65 MB

english, 2013

49

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

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

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 760 KB

english, 2013

50

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

Asai-Coakwell, M., March, L., Dai, X. H., DuVal, M., Lopez, I., French, C. R., Famulski, J., De Baere, E., Francis, P. J., Sundaresan, P., Sauve, Y., Koenekoop, R. K., Berry, F. B., Allison, W. T., Wa

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

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