Items where authors include "Roepman, R"

Article

Reijnders, MRF, Seibt, A, Brugger, M et al. (25 more authors) (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genetics in Medicine, 25 (7). 100838. ISSN 1098-3600

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.

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Wheway, G, Schmidts, M, Mans, DA et al. (75 more authors) (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17 (8). pp. 1074-1087. ISSN 1465-7392

Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.