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Journal Article
Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc ORCID: 0000-0001-6274-9891, Bakker, Bjorn, Amin, Najaf, Motta, Laura Lores, Kersten, Eveline, Garanto, Alejandro
ORCID: 0000-0001-5721-1560, Verlouw, Joost A. M., van Rooij, Jeroen G. J., Kraaij, Robert, de Jong, Paulus T. V. M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C. W. and den Hollander, Anneke I.
(2018).
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Ophthalmology, 125 (9).
S. 1433 - 1444.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1549-4713
Duvvari, Maheswara R., van de Ven, Johannes P. H., Geerlings, Maartje J., Saksens, Nicole T. M., Bakker, Bjorn, Henkes, Arjen, Neveling, Kornelia, del Rosario, Marisol, Westra, Dineke, van den Heuvel, Lambertus P. W. J., Schick, Tina, Fauser, Sascha, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K. and den Hollander, Anneke I. (2016). Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration. PLoS One, 11 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203
Geerlings, Maartje J., Kremlitzka, Mariann, Bakker, Bjorn, Nilsson, Sara C., Saksens, Nicole T., Lechanteur, Yara T., Pauper, Marc ORCID: 0000-0001-6274-9891, Corominas, Jordi, Fauser, Sascha, Hoyng, Carel B., Blom, Anna M., de Jong, Eiko K. and den Hollander, Anneke I.
(2017).
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
JAMA Ophthalmol., 135 (1).
S. 39 - 47.
CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2168-6173
Kersten, Eveline, Geerlings, Maartje J., Pauper, Marc, Corominas, Jordi, Bakker, Bjorn, Altay, Lebriz, Fauser, Sascha, de Jong, Eiko K., Hoyng, Carel B. and den Hollander, Anneke I. (2018). Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. Clin. Genet., 94 (6). S. 569 - 575. HOBOKEN: WILEY. ISSN 1399-0004
Kersten, Eveline, Geerlings, Maartje J., den Hollander, Anneke I., de Jong, Eiko K., Fauser, Sascha, Peto, Tunde ORCID: 0000-0001-6265-0381 and Hoyng, Carel B.
(2017).
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.
JAMA Ophthalmol., 135 (10).
S. 1037 - 1045.
CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2168-6173
Kremlitzka, Mariann, Geerlings, Maartje J., de Jong, Sarah, Bakker, Bjorn, Nilsson, Sara C., Fauser, Sascha, Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I. and Blom, Anna M. (2018). Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration. Hum. Mol. Genet., 27 (15). S. 2678 - 2689. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083
Lores-Motta, Laura ORCID: 0000-0002-2423-9126, Paun, Constantin C., Corominas, Jordi, Pauper, Marc
ORCID: 0000-0001-6274-9891, Geerlings, Maartje J., Altay, Lebriz, Schick, Tina, Daha, Mohamed R., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke I. and de Jong, Eiko K.
(2018).
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation.
Ophthalmology, 125 (7).
S. 1064 - 1075.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1549-4713
Saksens, Nicole T. M., Geerlings, Maartje J., Bakker, Bjorn, Schick, Tina, Daha, Mohamed R., Fauser, Sascha, Boon, Camiel J. F., de Jong, Eiko K., Hoyng, Carel B. and den Hollander, Anneke I. (2016). Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration. JAMA Ophthalmol., 134 (3). S. 287 - 294. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173