The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
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Citations
Cites
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Balemans, W. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.5.537 · Cited by 1,147 · cited 1×
“Loss-of-function mutations in SOST , encoding the extracellular BMP antagonist sclerostin, lead to sclerosteosi”
BackgroundBrunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318811 · Cited by 1,011
Cited by
Hellemans, J., Mortier, G., De Paepe, A., Speleman, F., & Vandesompele, J. (2007) · Genome Biology · doi:10.1186/gb-2007-8-2-r19 · Cited by 4,023
Self-citationPan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Ma, X., Liu, Y., Liu, Y., Alexandrov, L. B., Edmonson, M. N., Gawad, C., Zhou, X., Li, Y., Rusch, M. C., Easton, J., et al. (2018) · Nature · doi:10.1038/nature25795 · Cited by 901
How to do successful gene expression analysis using real-time PCR
Derveaux, S., Vandesompele, J., & Hellemans, J. (2010) · Methods · doi:10.1016/j.ymeth.2009.11.001 · Cited by 788
Self-citationWu, M., Wu, S., Chen, W., & Li, Y.-P. (2024) · Cell Research · doi:10.1038/s41422-023-00918-9 · Cited by 445
When Lamins Go Bad: Nuclear Structure and Disease
Schreiber, K. H., & Kennedy, B. K. (2013) · Cell · doi:10.1016/j.cell.2013.02.015 · Cited by 391
Metadata
- Authors
- Hellemans, J., Preobrazhenska, O., Willaert, A., Debeer, P., Verdonk, P. C. M., Costa, T., Janssens, K., Menten, B., Roy, N. V., Vermeulen, S. J. T., Savarirayan, R., Hul, W. V., Vanhoenacker, F., Huylebroeck, D., Paepe, A. D., Naeyaert, J.-M., Vandesompele, J., Speleman, F., Verschueren, K., Coucke, P. J., & Mortier, G. R.
- Venue
- Nature Genetics
- Published
- 2004-10-17
- Volume
- 36
- Issue
- 11
- Pages
- 1213-1218
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2133821573
- Cited by
- 472
- References
- 2
- FWCI
- 11.28
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. https://app.cochat.ai/papers/10.1038/ng1453
- The paper
- Hellemans, J., Preobrazhenska, O., Willaert, A., Debeer, P., Verdonk, P. C. M., Costa, T., Janssens, K., Menten, B., Roy, N. V., Vermeulen, S. J. T., Savarirayan, R., Hul, W. V., Vanhoenacker, F., Huylebroeck, D., Paepe, A. D., Naeyaert, J.-M., Vandesompele, J., Speleman, F., Verschueren, K., . . . Mortier, G. R. (2004). Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics. https://doi.org/10.1038/ng1453
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
