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Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara 
ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978
(2015).
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res., 25 (2).
S. 155 - 167.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Den Hollander, Anneke I., van de Ven, Johannes P., Nilsson, Sara, Tan, Perciliz L., Buitendijk, Gabrielle H. S., Ristau, Tina, Katsanis, Nicholas, Klaver, Caroline C. W., Blom, Anna M. and Hoyng, Carel C. B. (2014). A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783