Mary van Schooneveld

Research output

Research output per year 1988 2010 2013 2017 2018 2021 2024

• 58 Article
• 5 Comment/Letter to the editor
• 2 Chapter
• 1 Editorial

Research output per year

Research output per year

Search results

• 2024

  Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

  Hensman, J., Hahn, L. C., van Schooneveld, M. J., Diederen, R. M. H., ten Brink, J. B., Florijn, R. J., Bergen, A. A., Strubbe, I., Heutinck, P., van Genderen, M. M., van den Born, L. I., Thiadens, A. A., de Zaeytijd, J., Leroy, B. P., Hoyng, C. B. & Boon, C. J. F., 2024, (E-pub ahead of print) In: Ophthalmology Retina.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)
• 2023

  Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study

  Karuntu, J. S., Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Klaver, C. C. W., Meester-Smoor, M. A., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., Bergen, A. A., van Nispen, R. M. A. & Boon, C. J. F., 2023, (E-pub ahead of print) In: Acta ophthalmologica.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

  Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A., Heon, E., & 30 othersGirotto, G., Gasparini, P., Morgan, A., Bergen, A. A., ten Brink, J. B., Klaver, C. C. W., Tranebjærg, L., Rendtorff, N. D., Vermeer, S., Smits, J. J., Pennings, R. J. E., Aben, M., Oostrik, J., Astuti, G. D. N., Corominas Galbany, J., Kroes, H. Y., Phan, M., van Zelst-Stams, W. A. G., Thiadens, A. A. H. J., Verheij, J. B. G. M., van Schooneveld, M. J., de Bruijn, S. E., Li, C. H. Z., Hoyng, C. B., Gilissen, C., Vissers, L. E. L. M., Cremers, F. P. M., Kremer, H., van Wijk, E. & Roosing, S., 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)
• 2022

  CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials

  Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Klaver, C. C. W., Talsma, H. E., Fiocco, M., Florijn, R. J., ten Brink, J. B., Cremers, F. P. M., Meester-Smoor, M. A., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., Bergen, A. A. & Boon, C. J. F., 1 Feb 2022, In: American Journal of Ophthalmology. 234, p. 37-48 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  16 Citations (Scopus)

• Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

  van de Sompele, S., Small, K. W., Cicekdal, M. B., Soriano, V. C. L. P., D'haene, E., Shaya, F. S., Agemy, S., van der Snickt, T., Rey, A. D., Rosseel, T., van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A. A., Boon, C. J. F., de Zaeytijd, J., Inglehearn, C. F., Kousal, B., Leroy, B. P., Rivolta, C., & 9 othersVaclavik, V., van den Ende, J., van Schooneveld, M. J., Gómez-Skarmeta, J. L., Tena, J. J., Martinez-Morales, J. R., Liskova, P., Vleminckx, K. & de Baere, E., 3 Nov 2022, In: American journal of human genetics. 109, 11, p. 2029-2048 20 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene

  Hahn, L. C., Georgiou, M., Almushattat, H., van Schooneveld, M. J., de Carvalho, E. R., Wesseling, N. L., ten Brink, J. B., Florijn, R. J., Lissenberg-Witte, B. I., Strubbe, I., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Mukherjee, R., McKibbin, M., Meester-Smoor, M. A., Thiadens, A. A. H. J., Al-Khuzaei, S., Akyol, E., & 11 othersLotery, A. J., van Genderen, M. M., Ossewaarde-van Norel, J., van den Born, L. I., Hoyng, C. B., Klaver, C. C. W., Downes, S. M., Bergen, A. A., Leroy, B. P., Michaelides, M. & Boon, C. J. F., Aug 2022, In: Ophthalmology Retina. 6, 8, p. 711-722 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  9 Citations (Scopus)
• 2021

  A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

  Kohl, S., Llavona, P., Sauer, A., Reuter, P., Weisschuh, N., Kempf, M., Dehmelt, F. A., Arrenberg, A. B., Sliesoraityte, I., Zrenner, E., van Schooneveld, M. J., Rudolph, G. N., Kühlewein, L. & Wissinger, B., 1 Jul 2021, In: Human Molecular Genetics. 30, 13, p. 1218-1229 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

  Nguyen, X-T-A., Talib, M., van Cauwenbergh, C., van Schooneveld, M. J., Fiocco, M., Wijnholds, J., ten Brink, J. B., Florijn, R. J., Schalij-Delfos, N. E., Dagnelie, G., van Genderen, M. M., de Baere, E., Meester-Smoor, M. A., de Zaeytijd, J., Balikova, I., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., van den Born, L. I., Bergen, A. A., & 2 othersLeroy, B. P. & Boon, C. J. F., 1 Jan 2021, In: Retina (Philadelphia, Pa.). 41, 1, p. 213-223 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  17 Citations (Scopus)

• Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies

  Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Talsma, H. E., Florijn, R. J., ten Brink, J. B., Cremers, F. P. M., Thiadens, A. A. H. J., van den Born, L. I., Hoyng, C. B., Meester-Smoor, M. A., Bergen, A. A. & Boon, C. J. F., May 2021, In: Acta ophthalmologica. 99, 3, p. e402-e414

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  11 Citations (Scopus)

• Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

  Kuper, W. F. E., Talsma, H. E., van Schooneveld, M. J., Pott, J. W. R., Huijgen, B. C. H., de Wit, G. C., van Hasselt, P. M. & van Genderen, M. M., Jun 2021, In: Acta ophthalmologica. 99, 4, p. 397-404 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

  Runhart, E. H., Dhooge, P., Meester-Smoor, M., Pas, J., Pott, J. W. R., van Leeuwen, R., Kroes, H. Y., Bergen, A. A., de Jong-Hesse, Y., Thiadens, A. A., van Schooneveld, M. J., van Genderen, M., Boon, C., Klaver, C., van den Born, L. I., Cremers, F. P. M. & Hoyng, C. B., 2021, (E-pub ahead of print) In: Acta ophthalmologica.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• The phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: An ophthalmic perspective

  Nguyen, X-T-A., Almushattat, H., Strubbe, I., Georgiou, M., Li, C. H. Z., van Schooneveld, M. J., Joniau, I., de Baere, E., Florijn, R. J., Bergen, A. A., Hoyng, C. B., Michaelides, M., Leroy, B. P. & Boon, C. J. F., 1 Sept 2021, In: Genes. 12, 9, 1404.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

  Hahn, L. C., van Schooneveld, M. J., Wesseling, N. L., Florijn, R. J., ten Brink, J. B., Lissenberg-Witte, B. I., Strubbe, I., Meester-Smoor, M. A., Thiadens, A. A., Diederen, R. M., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Klaver, C. C. W., Ossewaarde-van Norel, J., Ingeborgh van den Born, L., Hoyng, C. B., van Genderen, M. M., Sieving, P. A., & 3 othersLeroy, B. P., Bergen, A. A. & Boon, C. J. F., Feb 2021, In: Ophthalmology. 129, 2, p. 191-202 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  29 Citations (Scopus)
• 2020

  RPGR-associated dystrophies: Clinical, genetic, and histopathological features

  Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Brinks, J., ten Brink, J., Florijn, R. J., Wijnholds, J., Verdijk, R. M., Bergen, A. A. & Boon, C. J. F., 2020, In: International journal of molecular sciences. 21, 3, 835.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  23 Citations (Scopus)
• 2019

  CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

  Talib, M., van Schooneveld, M. J., Thiadens, A. A., Fiocco, M., Wijnholds, J., Florijn, R. J., Schalij-Delfos, N. E., van Genderen, M. M., Putter, H., Cremers, F. P. M., Dagnelie, G., ten Brink, J. B., Klaver, C. C. W., van den Born, L. I., Hoyng, C. B., Bergen, A. A. & Boon, C. J. F., 1 Jun 2019, In: Retina (Philadelphia, Pa.). 39, 6, p. 1186-1189 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  50 Citations (Scopus)

• Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

  Talib, M., van Schooneveld, M. J., van Duuren, R. J. G., van Cauwenbergh, C., ten Brink, J. B., de Baere, E., Florijn, R. J., Schalij-Delfos, N. E., Leroy, B. P., Bergen, A. A. & Boon, C. J. F., 2019, In: Translational Vision Science and Technology. 8, 4, 24.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  13 Citations (Scopus)
• 2018

  Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

  Valkenburg, D., van Cauwenbergh, C., Lorenz, B., van Genderen, M. M., Bertelsen, M., Pott, J-W. R., Coppieters, F., de Zaeytijd, J., Thiadens, A. A. H. J., Klaver, C. C. W., Kroes, H. Y., van Schooneveld, M. J., Preising, M., Hoyng, C. B., Leroy, B. P., Ingeborgh van den Born, L. & Collin, R. W. J., 2018, In: Investigative Ophthalmology & Visual Science. 59, 11, p. 4384-4391

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  19 Citations (Scopus)

• LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION

  van Schuppen, S. M., Talib, M., Bergen, A. A., ten Brink, J. B., Florijn, R. J., Boon, C. J. F. & van Schooneveld, M. J., 2018, In: Retina (Philadelphia, Pa.). 38, 9, p. 1713-1724

  Research output: Contribution to journal › Article › Academic › peer-review
  14 Citations (Scopus)

• Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome

  Ramos de Carvalho, J. E., Schlingemann, R. O., Oranje, M., Bemelman, F. J. & van Schooneveld, M. J., 2018, In: International ophthalmology. 38, 1, p. 399-407

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  16 Citations (Scopus)

• The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

  Talib, M., van Schooneveld, M. J., van Cauwenbergh, C., Wijnholds, J., ten Brink, J. B., Florijn, R. J., Schalij-Delfos, N. E., Dagnelie, G., van Genderen, M. M., de Baere, E., Meester-Smoor, M. A., de Zaeytijd, J., Cremers, F. P. M., van den Born, L. I., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., Leroy, B. P., Bergen, A. A. & Boon, C. J. F., 2018, In: Investigative Ophthalmology & Visual Science. 59, 10, p. 4123-4133

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  40 Citations (Scopus)
• 2017

  Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

  RD5000 Consortium & AUTHOR GROUP, 1 Oct 2017, In: American Journal of Ophthalmology. 182, p. 81-89 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  53 Citations (Scopus)

• Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study

  Talib, M., van Schooneveld, M. J., van Genderen, M. M., Wijnholds, J., Florijn, R. J., ten Brink, J. B., Schalij-Delfos, N. E., Dagnelie, G., Cremers, F. P. M., Wolterbeek, R., Fiocco, M., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., Bergen, A. A. & Boon, C. J. F., 2017, In: Ophthalmology. 124, 6, p. 884-895

  Research output: Contribution to journal › Article › Academic › peer-review
  68 Citations (Scopus)

• Long-term follow-up of patients with retinitis pigmentosa type 12 caused by CRB1 mutations: A severe phenotype with considerable interindividual variability

  Mathijssen, I. B., Florijn, R. J., Van Den Born, L. I., Zekveld-Vroon, R. C., Ten Brink, J. B., Plomp, A. S., Baas, F., Meijers-Heijboer, H., Bergen, A. A. B. & Van Schooneveld, M. J., 2017, In: Retina. 37, 1, p. 161-172 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  32 Citations (Scopus)
• 2016

  Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

  Pierrache, L. H. M., Hartel, B. P., van Wijk, E., Meester-Smoor, M. A., Cremers, F. P. M., de Baere, E., de Zaeytijd, J., van Schooneveld, M. J., Cremers, C. W. R. J., Dagnelie, G., Hoyng, C. B., Bergen, A. A., Leroy, B. P., Pennings, R. J. E., van den Born, L. I. & Klaver, C. C. W., 2016, In: Ophthalmology. 123, 5, p. 1151-1160

  Research output: Contribution to journal › Article › Academic › peer-review
  71 Citations (Scopus)

• WHITE ANNULAR RETINAL DYSTROPHY WITH SEVERE GLAUCOMA A New Autosomal Dominant Condition

  Morizot, R., van Schooneveld, M. J. & Morizot, E., 2016, In: Retina (Philadelphia, Pa.). 36, 3, p. 619-623

  Research output: Contribution to journal › Article › Academic › peer-review
• 2015

  Ernstige visusdaling door auto-immuunretinopathie

  ten Berge, J. C. E. M., Schreurs, M. W. J., Dufour-van den Goorbergh, B. C. M. D., de Witte, P. M., van Schooneveld, M. J. & Rothova, A., 2015, In: Nederlands Tijdschrift voor Geneeskunde. 159, p. A8039

  Research output: Contribution to journal › Article › Professional
• 2014

  The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases

  AUTHOR GROUP, 2014, In: Investigative Ophthalmology & Visual Science. 55, 11, p. 7355-7360

  Research output: Contribution to journal › Article › Academic › peer-review
  27 Citations (Scopus)
• 2013

  Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

  Boon, C. J. F., van den Born, L. I., Visser, L., Keunen, J. E. E., Bergen, A. A. B., Booij, J. C., Riemslag, F. C., Florijn, R. J. & van Schooneveld, M. J., 2013, In: Ophthalmology. 120, 4, p. 809-820

  Research output: Contribution to journal › Article › Academic › peer-review
  110 Citations (Scopus)

• Expanded clinical spectrum of enhanced S-cone syndrome

  Yzer, S., Barbazetto, I., Allikmets, R., van Schooneveld, M. J., Bergen, A., Tsang, S. H., Jacobson, S. G. & Yannuzzi, L. A., 2013, In: JAMA ophthalmology. 131, 10, p. 1324-1330

  Research output: Contribution to journal › Article › Academic › peer-review
  50 Citations (Scopus)

• Genotype and phenotype of 101 dutch patients with congenital stationary night blindness

  Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L. & van Genderen, M. M., 2013, In: Ophthalmology. 120, 10, p. 2072-2081

  Research output: Contribution to journal › Article › Academic › peer-review
  84 Citations (Scopus)
• 2012

  A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens

  Littink, K. W., van Genderen, M. M., van Schooneveld, M. J., Visser, L., Riemslag, F. C. C., Keunen, J. E. E., Bakker, B., Zonneveld, M. N., den Hollander, A. I., Cremers, F. P. M. & van den Born, L. I., 2012, In: Ophthalmology. 119, 9, p. 1899-1906

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)
• 2011

  High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

  Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro-Miró, M., Littink, K. W., Arimadyo, K., Azam, M., Yazar, V., Zonneveld, M. N., Paun, C. C., Siemiatkowska, A. M., Strom, T. M., Hehir-Kwa, J. Y., Kroes, H. Y., de Faber, J-T. H. N., van Schooneveld, M. J., Heckenlively, J. R., Hoyng, C. B., den Hollander, A. I. & Cremers, F. P. M., 2011, In: Investigative Ophthalmology & Visual Science. 52, 5, p. 2227-2239

  Research output: Contribution to journal › Article › Academic › peer-review
  62 Citations (Scopus)
• 2010

  Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

  Thiadens, A. A. H. J., Roosing, S., Collin, R. W. J., van Moll-Ramirez, N., van Lith-Verhoeven, J. J. C., van Schooneveld, M. J., den Hollander, A. I., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M. & Klaver, C. C. W., 2010, In: Ophthalmology. 117, 4, p. 825-30.e1

  Research output: Contribution to journal › Article › Academic › peer-review
  60 Citations (Scopus)

• Course of Visual Decline in Relation to the Best1 Genotype in Vitelliform Macular Dystrophy

  Booij, J. C., Boon, C. J. F., van Schooneveld, M. J., Brink, J. B. T., Bakker, A., Jong, P. T. V. M. D., Hoyng, C. B., Bergen, A. A. B. & Klaver, C. C. W., 2010, In: Ophthalmology. 117, 7, p. 1415-1422

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

  Littink, K. W., Koenekoop, R. K., van den Born, L. I., Collin, R. W. J., Moruz, L., Veltman, J. A., Roosing, S., Zonneveld, M. N., Omar, A., Darvish, M., Lopez, I., Kroes, H. Y., van Genderen, M. M., Hoyng, C. B., Rohrschneider, K., van Schooneveld, M. J., Cremers, F. P. M. & den Hollander, A. I., 2010, In: Investigative Ophthalmology & Visual Science. 51, 11, p. 5943-5951

  Research output: Contribution to journal › Article › Academic › peer-review
  91 Citations (Scopus)

• Incidence of retinopathy of prematurity over the last decade in the Central Netherlands

  Hoogerwerf, A., Schalij-Delfos, N. E., van Schooneveld, M. J. & Termote, J. U. M., 2010, In: Neonatology. 98, 2, p. 137-142

  Research output: Contribution to journal › Article › Academic › peer-review
  30 Citations (Scopus)
• 2009

  CLINICAL AND MOLECULAR GENETIC ANALYSIS OF BEST VITELLIFORM MACULAR DYSTROPHY

  Boon, C. J. F., Theelen, T., Hoefsloot, E. H., van Schooneveld, M. J., Keunen, J. E. E., Cremers, F. P. M., Klevering, B. J. & Hoyng, C. B., 2009, In: Retina (Philadelphia, Pa.). 29, 6, p. 835-847

  Research output: Contribution to journal › Article › Academic › peer-review
  57 Citations (Scopus)

• Genetic etiology and clinical consequences of complete and incomplete achromatopsia

  Thiadens, A. A. H. J., Slingerland, N. W. R., Roosing, S., van Schooneveld, M. J., van Lith-Verhoeven, J. J. C., van Moll-Ramirez, N., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M. & Klaver, C. C. W., 2009, In: Ophthalmology. 116, 10, p. 1984-9.e1

  Research output: Contribution to journal › Article › Academic › peer-review
  102 Citations (Scopus)

• Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

  Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., de Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M. & Klaver, C. C. W., 2009, In: American journal of human genetics. 85, 2, p. 240-247

  Research output: Contribution to journal › Article › Academic › peer-review
  172 Citations (Scopus)
• 2008

  Optical coherence tomography findings for nanophthalmic eyes

  Bijlsma, W. R., van Schooneveld, M. J. & van der Lelij, A., 2008, In: Retina (Philadelphia, Pa.). 28, 7, p. 1002-1007

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)

• Retinal vascular lesions in patients of Caucasian and Asian origin with type 2 diabetes: baseline results from the ADVANCE Retinal Measurements (AdRem) study

  Stolk, R. P., van Schooneveld, M. J., Cruickshank, J. K., Hughes, A. D., Stanton, A., Lu, J., Patel, A., Thom, S. A. M., Grobbee, D. E. & Vingerling, J. R., 2008, In: Diabetes Care. 31, 4, p. 708-713

  Research output: Contribution to journal › Article › Academic › peer-review
  39 Citations (Scopus)
• 2007

  C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

  Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., Vanmolkot, K. R. J., de Vries, B., Wan, J., Kane, M. J., Mamsa, H., Schäfer, R., Stam, A. H., Haan, J., & 17 othersde Jong, P. T. V. M., Storimans, C. W., van Schooneveld, M. J., Oosterhuis, J. A., Gschwendter, A., Dichgans, M., Kotschet, K. E., Hodgkinson, S., Hardy, T. A., Delatycki, M. B., Hajj-Ali, R. A., Kothari, P. H., Nelson, S. F., Frants, R. R., Baloh, R. W., Ferrari, M. D. & Atkinson, J. P., 2007, In: Nature Genetics. 39, 9, p. 1068-1070

  Research output: Contribution to journal › Article › Academic › peer-review
  341 Citations (Scopus)

• Medium intensity oral anticoagulants versus aspirin after cerebral ischaemia of arterial origin (ESPRIT): a randomised controlled trial

  AUTHOR GROUP, 2007, In: Lancet neurology. 6, 2, p. 115-124

  Research output: Contribution to journal › Article › Academic › peer-review
  207 Citations (Scopus)

• Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

  Boon, C. J. F., van Schooneveld, M. J., den Hollander, A. I., van Lith-Verhoeven, J. J. C., Zonneveld-Vrieling, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B. & Klevering, B. J., Nov 2007, In: British journal of ophthalmology. 91, 11, p. 1504-1511

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  102 Citations (Scopus)
• 2005

  Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

  Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., Meire, F., van Schooneveld, M. J., de Jong, P. T. V. M. & Bergen, A. A. B., 2005, In: Journal of medical genetics. 42, 11, p. e67--- 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  76 Citations (Scopus)
• 2002

  Amino acid residue 67 (isoleucine) of HLA-DRB is associated with POHS

  Ongkosuwito, J. V., Tilanus, M. G. J., van der Lelij, A., van Schooneveld, M. J., Jager, M. J., Rozemuller, E. H., de Smet, M. D. & Suttorp-Schulten, M. S. A., 2002, In: Investigative Ophthalmology & Visual Science. 43, 6, p. 1725-1729

  Research output: Contribution to journal › Article › Academic › peer-review

  9 Citations (Scopus)
• 1998

  Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  Den Dunnen, J. T., Kraayenbrink, T., Van Schooneveld, M., Van Vosse, E. D., De Jong, P. T. V. M., Ten Brink, J. B., Schuurman, E., Tijmes, N., Van Ommen, G. J. B., Bergen, A. A. B., Andolfi, G., Montini, E., Li, Y., Oudet, C., Bolz, H., Kaplan, J., Orth, U., Gal, A., Hanauer, A., Bardelli, A. M., & 30 othersAyuso, C., Bitoun, P., Ventruto, V., Dallapiccola, B., Ballabio, A., Franco, B., Hiriyanna, K. T., Bingham, E. L., McHenry, C., Pawar, H., Coats, C., Darga, T., Richards, J. E., Sieving, P. A., Huopaniemi, L., Rantala, A., Rosenberg, T., Dahl, N., Wright, A., De La Chapelle, A., Alitalo, T., Lenzner, S., Brunner, B., Feil, S., Niesler, B., Schulz, U., Pinckers, A., Blankennagel, A., Ruether, K. & Kellner, U., Jul 1998, In: Human Molecular Genetics. 7, 7, p. 1185-1192 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  198 Citations (Scopus)
• 1997

  Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

  Jöbsis, G. J., Weber, J. W., Barth, P. G., Keizers, H., Baas, F., van Schooneveld, M. J., van Hilten, J. J., Troost, D., Geesink, H. H. & Bolhuis, P. A., 1997, In: Journal of neurology, neurosurgery, and psychiatry. 62, 4, p. 367-371

  Research output: Contribution to journal › Article › Academic › peer-review
  37 Citations (Scopus)
• 1996

  Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

  Aalfs, C. M., Oosterwijk, J. C., van Schooneveld, M. J., Begeman, C. J., Wabeke, K. B. & Hennekam, R. C., 1996, In: Clinical Dysmorphology. 5, 2, p. 93-103

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)

• Further delineation of the acro-renal-ocular syndrome

  Aalfs, C. M., van Schooneveld, M. J., van Keulen, E. M. & Hennekam, R. C., 1996, In: American journal of medical genetics. 62, 3, p. 276-281

  Research output: Contribution to journal › Article › Academic › peer-review
  16 Citations (Scopus)