The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
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Citations
Cites
Regulation of chromatin structure by site-specific histone H3 methyltransferases
Rea, S., Eisenhaber, F., O'Carroll, D., Strahl, B. D., Sun, Z.-W., Schmid, M., Opravil, S., Mechtler, K., Ponting, C. P., Allis, C. D., et al. (2000) · Nature · doi:10.1038/35020506 · Cited by 2,845
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,946
Genome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 925
The PHD finger: Implications for chromatin-mediated transcriptional regulation
Aasland, R. (1995) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(00)88957-4 · Cited by 853
Ganguly, A., Rock, M. J., & Prockop, D. J. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.21.10325 · Cited by 674
Haploinsufficiency of NSD1 causes Sotos syndrome
Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., et al. (2002) · Nature Genetics · doi:10.1038/ng863 · Cited by 644
Chesi, M., Nardini, E., Lim, R. S. C., Smith, K. D., Kuehl, W. M., & Bergsagel, P. L. (1998) · Blood · doi:10.1182/blood.v92.9.3025 · Cited by 572
Cerebral Gigantism in Childhood
Sotos, J. F., Dodge, P. R., Muirhead, D. M., et al. (1964) · New England Journal of Medicine · doi:10.1056/nejm196407162710301 · Cited by 405
Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes
Cooper, D. N., & Krawczak, M. (1989) · Human Genetics · doi:10.1007/bf00286715 · Cited by 347
Sotos syndrome: a study of the diagnostic criteria and natural history.
Cole, T. R., & Hughes, H. E. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.1.20 · Cited by 311
Self-citation
Cited by
Roles and regulation of histone methylation in animal development
Jambhekar, A., Dhall, A., & Shi, Y. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0151-1 · Cited by 556
Genetic and Epigenetic Networks in Intellectual Disabilities
van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review
Lapunzina, P. (2005) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30064 · Cited by 276
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229
The interplay between DNA and histone methylation: molecular mechanisms and disease implications
Li, Y., Chen, X., & Lu, C. (2021) · The EMBO Reports · doi:10.15252/embr.202051803 · Cited by 223
Metadata
- Authors
- Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Trevor Cole, R. P., & Rahman, N.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-01
- Volume
- 72
- Issue
- 1
- Pages
- 132-143
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1981615602
- Cited by
- 301
- References
- 22
- FWCI
- 12.56
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes. https://app.cochat.ai/papers/10.1086/345647
- The paper
- Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Trevor Cole, R. P., & Rahman, N. (2003). NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes. The American Journal of Human Genetics. https://doi.org/10.1086/345647
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.
