The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy
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Citations
Cites
Estimation of globular protein secondary structure from circular dichroism
Provencher, S. W., & Gloeckner, J. (1981) · Biochemistry · doi:10.1021/bi00504a006 · Cited by 2,155
Modification of Proteins by Ubiquitin and Ubiquitin-Like Proteins
Kerscher, O., Felberbaum, R., & Hochstrasser, M. (2006) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.22.010605.093503 · Cited by 1,517
Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5
Schott, J.-J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., Maron, B. J., Seidman, C. E., & Seidman, J. G. (1998) · Science · doi:10.1126/science.281.5373.108 · Cited by 1,308
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., et al. (2003) · Nature · doi:10.1038/nature01827 · Cited by 1,236
Building the mammalian heart from two sources of myocardial cells
Buckingham, M., Meilhac, S., & Zaffran, S. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1710 · Cited by 1,204
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T. A., Leblanc-Straceski, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-30 · Cited by 1,093
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Yi Li, Q., Newbury-Ecob, R. A., Terrett, J. A., Wilson, D. I., Curtis, A. R. J., Ho Yi, C., Gebuhr, T., Bullen, P. J., Robson, S. C., Strachan, T., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-21 · Cited by 927
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
Benson, D. W., Silberbach, G. M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M. C., Watson, M. S., Seidman, J. G., et al. (1999) · Journal of Clinical Investigation · doi:10.1172/jci8154 · Cited by 690
NK-2Homeobox Genes and Heart Development
Harvey, R. P. (1996) · Developmental Biology · doi:10.1006/dbio.1996.0212 · Cited by 577
Self-citationMutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Bamshad, M., Lin, R. C., Law, D. J., Watkins, W. S., Krakowiak, P. A., Moore, M. E., Franceschini, P., Lala, R., Holmes, L. B., Gebuhr, T. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-311 · Cited by 540
Cited by
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
The developmental genetics of congenital heart disease
Bruneau, B. G. (2008) · Nature · doi:10.1038/nature06801 · Cited by 687
Heart Valve Development: Regulatory Networks in Development and Disease
Combs, M. D., & Yutzey, K. E. (2009) · Circulation Research · doi:10.1161/circresaha.109.201566 · Cited by 455
Congenital heart disease: current knowledge about causes and inheritance
Blue, G. M., Kirk, E. P., Sholler, G. F., Harvey, R. P., & Winlaw, D. S. (2012) · Medical Journal of Australia · doi:10.5694/mja12.10811 · Cited by 241
Self-citationLoss of Gata5 in mice leads to bicuspid aortic valve
Laforest, B., Andelfinger, G., & Nemer, M. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44555 · Cited by 190
Metadata
- Authors
- Kirk, E. P., Sunde, M., Costa, M. W., Rankin, S. A., Wolstein, O., Castro, M. L., Butler, T. L., Hyun, C., Guo, G., Otway, R., Mackay, J. P., Waddell, L. B., Cole, A. D., Hayward, C., Keogh, A., Macdonald, P., Griffiths, L., Fatkin, D., Sholler, G. F., Zorn, A. M., Feneley, M. P., Winlaw, D. S., & Harvey, R. P.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-08
- Volume
- 81
- Issue
- 2
- Pages
- 280-291
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1480816628
- Cited by
- 358
- References
- 43
- FWCI
- 6.70
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy. https://app.cochat.ai/papers/10.1086/519530
- The paper
- Kirk, E. P., Sunde, M., Costa, M. W., Rankin, S. A., Wolstein, O., Castro, M. L., Butler, T. L., Hyun, C., Guo, G., Otway, R., Mackay, J. P., Waddell, L. B., Cole, A. D., Hayward, C., Keogh, A., Macdonald, P., Griffiths, L., Fatkin, D., Sholler, G. F., . . . Harvey, R. P. (2007). Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy. The American Journal of Human Genetics. https://doi.org/10.1086/519530
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.
