The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
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Citations
Cites
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R., Armstrong, D. L., Noebels, J. L., David Sweatt, J., & Zoghbi, H. Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh282 · Cited by 626
Self-citationClinical manifestations and stages of rett syndrome
Hagberg, B. (2002) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.10020 · Cited by 416
Cited by
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Self-citationCopy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
Self-citationStructural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Self-citationLee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914
Self-citationHastings, P. J., Ira, G., & Lupski, J. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000327 · Cited by 818
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Metadata
- Authors
- del Gaudio, D., Fang, P., Scaglia, F., Ward, P. A., Craigen, W. J., Glaze, D. G., Neul, J. L., Patel, A., Lee, J. A., Irons, M., Berry, S. A., Pursley, A. A., Grebe, T. A., Freedenberg, D., Martin, R. A., Hsich, G. E., Khera, J. R., Friedman, N. R., Zoghbi, H. Y., Eng, C. M., Lupski, J. R., Beaudet, A. L., Cheung, S. W., & Roa, B. B.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 8
- Issue
- 12
- Pages
- 784-792
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2065410176
- Cited by
- 272
- References
- 2
- FWCI
- 12.19
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. https://app.cochat.ai/papers/10.1097/01.gim.0000250502.28516.3c
- The paper
- del Gaudio, D., Fang, P., Scaglia, F., Ward, P. A., Craigen, W. J., Glaze, D. G., Neul, J. L., Patel, A., Lee, J. A., Irons, M., Berry, S. A., Pursley, A. A., Grebe, T. A., Freedenberg, D., Martin, R. A., Hsich, G. E., Khera, J. R., Friedman, N. R., Zoghbi, H. Y., . . . Roa, B. B. (2006). Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine. https://doi.org/10.1097/01.gim.0000250502.28516.3c
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.
