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Wetenschappelijke publicaties van medewerkers diagnostisch team

van Huet RA, Oomen CJ, Plomp AS, van Genderen MM, Klevering BJ, Schlingemann RO, Klaver CC, van den Born LI, Cremers FP; RD5000 Study Group. The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases. Invest Ophthalmol Vis Sci. 2014 Nov 17;55(11):7355-60. doi: 10.1167/iovs.14-15317.

Hettinga YM1, Verhagen FH, van Genderen M, de Boer JH. Characteristics of childhood uveitis leading to visual impairment and blindness in the Netherlands. Acta Ophthalmol. 2014 Dec;92(8):798-804

Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Abstract (PubMed)

Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis. 2013 Nov 1;19:2165-72. eCollection 2013. Abstract (PubMed)

Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M. Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6973-81. doi: 10.1167/iovs.13-12293. Abstract (Pubmed)

Mieke M.C. Bijveld, Ralph J. Florijn, Arthur A.B. Bergen, L. Ingeborgh van den Born, Maarten Kamermans, Liesbeth Prick, Frans C.C. Riemslag, Mary J. van Schooneveld, Astrid M.L. Kappers, Maria M. van Genderen. Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness. Ophthalmology. 2013 Oct;120(10):2072-81

Bijveld MM, van Genderen MM, Hoeben FP, Katzin AA, van Nispen RM, Riemslag FC, Kappers AM. Assessment of night vision problems in patients with congenital stationary night blindness. PLoS One. 2013 May 3;8(5):e62927.

Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MMRiemslag FC; the European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia. Am J Hum Genet. 2012 Aug 15. Abstract (Pubmed)

Van Genderen M, Dekker M, Pilon F, Bals I. Diagnosing cerebral visual impairment in children with good visual acuity. Strabismus. 2012 Jun;20(2):78-83. Abstract (Pubmed)

Dekker MJ, Pilon F, Bijveld MM, de Wit GC, van Genderen MM. Crowding ratio in young normally sighted children. Strabismus. 2012 Jun;20(2):49-54. Abstract (Pubmed)

Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born. A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens. Ophthalmology. 2012 May 2. Abstract (Pubmed)

Boonstra N, Limburg H, Tijmes N, van Genderen M, Schuil J, van Nispen R. Changes in causes of low vision between 1988 and 2009 in a Dutch population of children. Acta Ophthalmol. 2012 May;90(3):277-86. Abstract (Pubmed)

Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. Epub 2012 Jan 20. Abstract (Pubmed)

Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen MM, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):331-9. Abstract (Pubmed)

Bijveld MM, Kappers AML, Riemslag FCC, Hoeben FP, van Genderen MM. An extended 15 Hz protocol (2): data of normal subjects, and patients with achromatopsia, CSNB1 and CSNB2. Doc Ophthalmol. 2011 Dec;123(3):161-72

MMC Bijveld(, AML Kappers, FCC Riemslag, FP Hoeben, ACL Vrijling, MM van Genderen. An extended 15 Hz protocol (1): the contributions of the primary and secondary rod pathways and the cone pathway. Doc Ophthalmol. 2011 Dec;123(3):149-59

van Schooneveld MJ, van den Born LI, van Genderen M, Bollemeijer JG. The conclusions of Clemson et al concerning valproic acid are premature. Br J Ophthalmol. 2011 Jan;95(1):153; author reply 153-4. Abstract (PubMed).

Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI. Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci. 2010 Jun 16. Abstract (PubMed)

van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):730-6. Abstract (PubMed)

Maleeha Azam, Muhammad Khan, Andreas Gal, Alamdar Hussain, Syed Shah, Muhammad Khan, Ahmed Sadeque, Habib Bokhari, Rob Collin, Ulrike Orth, Maria van Genderen, Anneke den Hollander, Frans Cremers, and Raheel Qamar. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis. 2009 Dec 3;15:2526-34

Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Jul 2. Abstract (PubMed)

Karin W. Littink, Maria M. van Genderen, Rob W. J. Collin, Susanne Roosing, Arjan P. M. de Brouwer, Frans C. C. Riemslag, Hanka Venselaar, Alberta A. H. J. Thiadens, Carel B. Hoyng, Klaus Rohrschneider, Anneke I. den Hollander, Frans P. M. Cremers, and L. Ingeborgh van den Born. A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder. Invest. Ophthalmol. Vis. Sci. 2009 50: 2344-2350.

Poot M, Eleveld MJ, van 't Slot R, van Genderen MM, Verrijn Stuart AA, Hochstenbach R, Beemer FA. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. Eur J Med Genet. 2007 Nov-Dec;50(6):432-40. Epub 2007 Sep 9. Abstract (PubMed)

Van Genderen M, Riemslag F, Jorritsma F, Hoeben F, Meire F, Stilma J.  The key role of electrophysiology in the diagnosis of visually impaired children. Acta Ophthalmol Scand. 2006 Dec;84(6):799-806. Abstract (PubMed).

M M van Genderen, F C C Riemslag, J Schuil, F P Hoeben, J S Stilma, and F M Meire. Chiasmal misrouting and foveal hypoplasia without albinism. Br J Ophthalmol. 2006 September; 90(9): 1098–1102.

Zeitz C/Van Genderen M, Neidhardt J, Luhmann UFO, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FPM, Berger W. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15 Hz flicker electroretinogram (ERG). Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35

Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J Med Genet. 2003 Sep;40(9):709-13. Abstract (PubMed).

Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH. Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. Ophthalmic Genet. 2000 Dec;21(4):243-50. Abstract (PubMed)

M. M van Genderen, G. Kinds, F. Riemslag, and R. Hennekam. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000 October; 84(10): 1177–1184.

Van Genderen MM, Schuil J, Meire FM. Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases. Ophthalmic Genet. 1997 Dec;18(4):199-207. Abstract (PubMed)

Van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. Acta Ophthalmol. 2015 Feb;93(1):83-94. doi: 10.1111/aos.12500. Epub 2014 Nov 11. Abstract (PubMed)

Siemiatkowska AM, Schuurs-Hoeijmakers JH, Bosch DG, Boonstra FN, Riemslag FC, Ruiter M, de Vries BB, den Hollander AI, Collin RW, Cremers FP. Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. JAMA Ophthalmol. 2014 Aug;132(8):1002-4. doi: 10.1001/jamaophthalmol.2014.983. Abstract (Pubmed)

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Abstract (PubMed)

Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ. Autosomal recessive bestrophinopathy: differential diagnosis and treatment optionsOphthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3. Abstract (PubMed)

Thiadens AA, Slingerland NW, Florijn RJ, Visser GH, Riemslag FC, Klaver CC. Cone-rod dystrophy can be a manifestation of Danon disease. Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):769-74. doi: 10.1007/s00417-011-1857-8. Abstract (PubMed)

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Clinical course of cone dystrophy caused by mutations in the RPGR geneGraefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Abstract (website PubMed).

Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010 Oct;42(10):897-901. doi: 10.1038/ng.663. Epub 2010 Sep 12. Abstract (PubMed)

Riemslag FC. Visually impaired children: "coming to better terms". Doc Ophthalmol. 2009 Aug;119(1):1-7. doi: 10.1007/s10633-008-9161-6. Epub 2009 Jan 10. Abstract (PubMed).

Riemslag, FCC, Cronogorcevic, Z, Talsma, H. and de Vries, M. Flicker fusion and iris diahany. J Visual Impairment Res. 4(3): 175 – 180 (2002).

Jones EA, Giger-Mateeva VI, Reits D, Riemslag FC, Liberov B, Spekrijse H. Visual event-related potentials in cirrhotic patients without overt encephalopathy: the effects of flumazenil. Metab Brain Dis. 2001 Jun;16(1-2):43-53. Abstract (PubMed)

Giger-Mateeva VI, Riemslag FC, Reits D, Liberov B, Jones EA, Spekreijse H. Visual event-related potentials in cirrhotic patients without overt encephalopathy. Metab Brain Dis. 2000 Sep;15(3):179-91. Abstract (PubMed)

Giger-Mateeva VI, Riemslag FC, Reits D, Schellart NA, Spekreijse H. Isolation of late event-related components to checkerboard stimulation. Electroencephalogr Clin Neurophysiol Suppl. 1999;50:133-49. Abstract (PubMed)

Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am J Hum Genet. 1997 Oct;61(4):934-9. Abstract (PubMed)

Suttorp-Schulten MS, Riemslag FC, Rothova A, van der Kley AJ, Riemslag FC. Long-term effect of repeated hyperbaric oxygen therapy on visual acuity in inflammatory cystoid macular oedema. Br J Ophthalmol. 1997 Apr;81(4):329. Abstract (PubMed)

Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. J Med Genet. 1996 Oct;33(10):869-72. Abstract (PubMed)

Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. Hum Mol Genet. 1995 May;4(5):931-5. Abstract (Pubmed)

Van den Born LI, van Soest S, van Schooneveld MJ, Riemslag FC, de Jong PT, Bleeker-Wagemakers EM. Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium. Am J Ophthalmol. 1994 Oct 15;118(4):430-9. Abstract (Pubmed)

Nieuwendaal CP, Odenthal MT, Kok JH, Venema HW, Oosting J, Riemslag FC, Kijlstra A. Morphology and function of the corneal endothelium after long-term contact lens wear. Invest Ophthalmol Vis Sci. 1994 Jun;35(7):3071-7. Abstract (Pubmed)

Van den Born LI, van Schooneveld MJ, de Jong LA, Riemslag FC, de Jong PT, Gal A, Bleeker-Wagemakers EM. Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family. Ophthalmic Genet. 1994 Jun;15(2):51-60. Abstract (Pubmed)

Manahilov V, Riemslag FC, Spekreijse H. The laplacian analysis of the pattern onset response in man. Electroencephalogr Clin Neurophysiol. 1992 Mar;82(3):220-4. Abstract (Pubmed)

Odom JV, Reits D, Burgers N, Riemslag FC. Flicker electroretinograms: a systems analytic approach. Optom Vis Sci. 1992 Feb;69(2):106-1. Abstract (Pubmed)

Beers AP, Riemslag FC, Spekreijse H. Visual evoked potential estimation of visual activity with a Laplacian derivation. Doc Ophthalmol. 1992;79(4):383-9. Abstract (Pubmed)

Riemslag FC, Beers AP, Spekreijse H. The application of Laplacian analysis in the recording of half-field pattern-onset evoked potentials. Doc Ophthalmol. 1992;80(1):75-82. Abstract (Pubmed)

Riemslag FC, Brinkman CJ, Verduyn Lunel HF, Spekreijse H, Kijlstra A. Analysis of the electroretinogram in toxoplasma retinochorioiditis. Doc Ophthalmol. 1992;82(1-2):57-63. Abstract (Pubmed)

Riemslag FC, Verduyn Lunel HF, Spekreijse H. The electrooculogram: a refinement of the method. Doc Ophthalmol. 1989 Dec;73(4):369-75. Abstract (Pubmed)

Riemslag FC, Van der Heijde GL, Van Dongen MM, Ottenhoff F. On the origin of the presaccadic spike potential. Electroencephalogr Clin Neurophysiol. 1988 Oct;70(4):281-7. Abstract (Pubmed)

Riemslag FC, van der Heijde GL, van Dongen MM. Are eye movement evoked potentials different from pattern reversal evoked potentials? Doc Ophthalmol. 1987 Aug;66(4):279-89. Abstract (Pubmed)

Van den Berg TJ, Riemslag FC, de Vos GW, Verduyn Lunel HF. Pattern ERG and glaucomatous visual field defects. Doc Ophthalmol. 1986 Jan 15;61(3-4):335-41. Abstract (Pubmed)

Riemslag FC, Ringo JL, Spekreijse H, Verduyn Lunel HF. The luminance origin of the pattern electroretinogram in man. J Physiol. 1985 Jun;363:191-209. Abstract (Pubmed)

Riemslag FC, Spekreijse H, Van Wessem TN. Responses to paired onset stimuli: implications for the delayed evoked potentials in multiple sclerosis. Clin Neurophysiol. 1985 May;62(3):155-66. Abstract (Pubmed)

Riemslag FC, Spekreijse H, van Walbeek H. Pattern evoked potential diagnosis of multiple sclerosis: a comparison of various contrast stimuli. Adv Neurol. 1982;32:417-26. Abstract (Pubmed)

Roulez FM, Schuil J, Meire FM. Corneal opacities in the Hallermann-Streiff syndrome. Ophthalmic Genet. 2008 Jun;29(2):61-6. doi: 10.1080/13816810802027101. Abstract (Pubmed)

Van den Abeele K, Craen M, Schuil J, Meire FM. Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases. Bull Soc Belge Ophtalmol. 2001;(281):67-72. Abstract (Pubmed)

Ausems MG1, Schuil J, Van Raveswaaij-Arts C, De Pater JM. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome. Genet Couns. 2004;15(4):405-10. Abstract (Pubmed)

Bert de Vries, Danielle Bosch, F.N. Boonstra, Taroh Kinoshita, Shalini Jhangiani, Joep de Ligt, Frans Cremers, James Lupski, and Yoshiko Murakami. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. [Paper #834-14-EJHGR] 

Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB. Chromosomal aberrations in Cerebral Visual Impairment. Eur J Ped Neurol. 2014. Abstract (European Paediatric Neurology Society). 

Daniëlle G.M. Bosch1,2,3,4, F. Nienke Boonstra1,3, Rolph Pfundt2, Frans P.M. Cremers2,4, Bert B.A. de Vries2,3,5. Cerebral visual impairment, autism and pancreatitis associated with a 9 Mb deletion on 10p12. Clinical Dysmorphology, 2014 Vol 00 No 00 DOI: 10.1097/MCD.0000000000000062.

Daniëlle Gm Bosch, F Nienke Boonstra, Michèl Aap Willemsen, Frans Pm Cremers, Bert Ba de Vries. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. BMC Ophthalmology 05/2014; 14(1):59. Abstract (ResearchGate)

Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga-Jauregui, Mafei Xu, Joep de Ligt, Shalini Jhangiani, Wojciech Wiszniewski, Donna M. Muzny, Helger G. Yntema, Rolph Pfundt, [......], Chun-An Chen, Richard A. Lewis, Sophia Y. Tsai, Richard A. Gibbs, Ming-Jer Tsai, James R. Lupski, Huda Y. Zoghbi, Frans P.M. Cremers, Bert B.A. de Vries, Christian P. Schaaf. NR2F1 Mutations Cause Optic Atrophy with Intellectual DisabilityThe American Journal of Human Genetics 01/2014; 94(2). Abstract (ResearchGate)

Bianca Huurneman, F Nienke Boonstra. Monocular and Binocular Development in Children with Albinism, Infantile Nystagmus Syndrome, and Normal Vision. Strabismus 11/2013. Abstract (ResearchGate)

Rob W J Collin, Konstantinos Nikopoulos, Margo Dona, Christian Gilissen, Alexander Hoischen, F Nienke Boonstra, James A Poulter, Hiroyuki Kondo, Wolfgang Berger, Carmel Toomes, [......], Lonneke Duijkers, Chris F Inglehearn, Lea Sollfrank, Tim M Strom, Eiichi Uchio, C Erik van Nouhuys, Hannie Kremer, Joris A Veltman, Erwin van Wijk, Frans P M Cremers. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences 05/2013; Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28. Abstract (ResearchGate)

A J van Sorge, J U M Termote, M J de Vries, F N Boonstra, C Stellingwerf, N E Schalij-Delfos The British journal of ophthalmology 02/2011; 95(7):937-41 A J van Sorge, J U M Termote, M J de Vries, F N Boonstra, C Stellingwerf, N E Schalij-Delfos. The incidence of visual impairment due to retinopathy of prematurity (ROP) and concomitant disabilities in the Netherlands: a 30 year overview. The British Journal of Ophthalmology 01/2011.

Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C Erik van Nouhuys, F Nienke Boonstra, Ellen A W Blokland, Peer Arts, Nienke Wieskamp, Tim M Strom, Carmen Ayuso, Mauk A D Tilanus, Sanne Bouwhuis, Arijit Mukhopadhyay, Hans Scheffer, Lies H Hoefsloot, Joris A Veltman, Frans P M Cremers, Rob W J Collin. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. The American Journal of Human Genetics 02/2010; 86(2):240-7. Abstract (ResearchGate)

Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat. 2010 Jun;31(6):656-66. doi: 10.1002/humu.21250. Abstract (Pubmed)

F Nienke Boonstra, C Erik van Nouhuys, José Schuil, Ilse J de Wijs, Kim P van der Donk, Kostas Nikopoulos, Arijit Mukhopadhyay, Hans Scheffer, Mauk A D Tilanus, Frans P M Cremers, Lies H Hoefsloot. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Investigative ophthalmology & visual science 04/2009; 50(9):4379-85. Abstract (ResearchGate)

Boonstra F.N., Van Nouhuys C.E., Schuil J., Wijs de I. J., Donk van der K. P., Niko[oulos K. Mukhopadhyay A., Scheffer H., Tilanus M.A.D., Cremers F. P. M., Hoefsloot L.H.  Author Response clinical evaluation of familial Exudative Vitreoretinopathy IOVS online 3-11-2009  Investigative ophthalmology & visual science 01/2009. Abstract (ResearchGate)

F Boonstra, I Claerhout, F Hol, G Smit, J van Collenburg, F Meire. Corneal decompensation in a boy with Kearns-Sayre syndrome. Ophthalmic Genetics 01/2003; 23(4):247-51. Abstract (ResearchGate)

F N Boonstra, S A Koopmans, W A Houtman. Fusional vergence in microstrabismus. Documenta Ophthalmologica 01/1988; 70(2-3):221-6. Abstract (ResearchGate)