Items where authors include "Blacque, OE"

Article

Lange, KI, Best, S, Tsiropoulou, S et al. (3 more authors) (2022) Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. Human Molecular Genetics, 31 (10). ddab344. pp. 1574-1587. ISSN 0964-6906

van Dam, TJP, Kennedy, J, van der Lee, R et al. (45 more authors) (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PloS one, 14 (5). ARTN: e0216705.

Bruel, A-L, Franco, B, Duffourd, Y et al. (49 more authors) (2017) Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6). pp. 371-380. ISSN 0022-2593

Lambacher, NJ, Bruel, A, van Dam, TJP et al. (21 more authors) (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18 (1). pp. 122-131. ISSN 1465-7392