The DOI matches its Crossref record; 70 of the 70 references it cites were found in a registry or an index.
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
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Citations
Cites
ESEfinder: a web resource to identify exonic splicing enhancers
Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,603
Improved Splice Site Detection in Genie
REESE, M. G., EECKMAN, F. H., KULP, D., & HAUSSLER, D. (1997) · Journal of Computational Biology · doi:10.1089/cmb.1997.4.311 · Cited by 1,567
Improved splice site detection in Genie
Reese, M. G., Eeckman, F. H., Kulp, D., & Haussler, D. (1997) · Proceedings of the first annual international conference on Computational molecular biology - RECOMB '97 · doi:10.1145/267521.267766 · Cited by 1,439
Frameshift Mutations and the Genetic Code
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., & Inouye, M. (1966) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1966.031.01.014 · Cited by 1,400
Von Recklinghausen Neurofibromatosis
Riccardi, V. M. (1981) · New England Journal of Medicine · doi:10.1056/nejm198112313052704 · Cited by 1,344
Self-citationThe GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
Martin, G. A., Viskoohil, D., Bollag, G., McCabe, P. C., Crosier, W. J., Haubruck, H., Conroy, L., Clark, R., O'Connell, P., Cawthon, R. M., et al. (1990) · Cell · doi:10.1016/0092-8674(90)90150-d · Cited by 982
Neurofibromatosis, Phenotype, Natural History, and Pathogenesis
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Self-citationOnline Mendelian Inheritance in Man 'OMIM'.
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VON RECKLINGHAUSEN NEUROFIBROMATOSIS: A CLINICAL AND POPULATION STUDY IN SOUTH-EAST WALES
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Self-citation
Cited by
Evans, D. G., Howard, E., Giblin, C., Clancy, T., Spencer, H., Huson, S. M., & Lalloo, F. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33139 · Cited by 988
Self-citationNeurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective
Ferner, R. E. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70075-3 · Cited by 511
Clinical and genetic aspects of neurofibromatosis 1
Jett, K., & Friedman, J. M. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181bf15e3 · Cited by 501
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor
Ratner, N., & Miller, S. J. (2015) · Nature Reviews Cancer · doi:10.1038/nrc3911 · Cited by 493
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
Brems, H., Beert, E., de Ravel, T., & Legius, E. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70033-6 · Cited by 349
Metadata
- Authors
- Upadhyaya, M., Huson, S. M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D. G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., & Messiaen, L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-01
- Volume
- 80
- Issue
- 1
- Pages
- 140-151
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2044976670
- Cited by
- 362
- References
- 70
- FWCI
- 7.53
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation. https://app.cochat.ai/papers/10.1086/510781
- The paper
- Upadhyaya, M., Huson, S. M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D. G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J. P., . . . Messiaen, L. (2007). An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation. The American Journal of Human Genetics. https://doi.org/10.1086/510781
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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.
