The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
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Citations
Cites
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A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
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MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
Detection of nonneutral substitution rates on mammalian phylogenies
Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R., & Siepel, A. (2010) · Genome Research · doi:10.1101/gr.097857.109 · Cited by 2,353
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001025 · Cited by 1,757
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
Shovlin, C. L., Guttmacher, A. E., Buscarini, E., Faughnan, M. E., Hyland, R. H., Westermann, C. J. J., Kjeldsen, A. D., & Plauchu, H. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p · Cited by 1,744
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Cited by
TGF-β signaling in health and disease
Massagué, J., & Sheppard, D. (2023) · Cell · doi:10.1016/j.cell.2023.07.036 · Cited by 890
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., Whitehead, K., Stevenson, D. A., & Bayrak-Toydemir, P. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00001 · Cited by 726
Self-citationTGF-β Signaling in Control of Cardiovascular Function
Goumans, M.-J., & ten Dijke, P. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a022210 · Cited by 360
Metadata
- Authors
- Wooderchak-Donahue, W. L., McDonald, J., O’Fallon, B., Upton, P. D., Li, W., Roman, B. L., Young, S., Plant, P., Fülöp, G. T., Langa, C., Morrell, N. W., Botella, L. M., Bernabeu, C., Stevenson, D. A., Runo, J. R., & Bayrak-Toydemir, P.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 93
- Issue
- 3
- Pages
- 530-537
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2070755192
- Cited by
- 305
- References
- 33
- FWCI
- 9.91
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia. https://app.cochat.ai/papers/10.1016/j.ajhg.2013.07.004
- The paper
- Wooderchak-Donahue, W. L., McDonald, J., O’Fallon, B., Upton, P. D., Li, W., Roman, B. L., Young, S., Plant, P., Fülöp, G. T., Langa, C., Morrell, N. W., Botella, L. M., Bernabeu, C., Stevenson, D. A., Runo, J. R., & Bayrak-Toydemir, P. (2013). BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2013.07.004
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.
