The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
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Citations
Cites
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648
Identification and characterization of the tuberous sclerosis gene on chromosome 16
(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
Roach, E. S., Gomez, M. R., & Northrup, H. (1998) · Journal of Child Neurology · doi:10.1177/088307389801301206 · Cited by 1,081
Self-citationDabora, S. L., Jozwiak, S., Franz, D. N., Roberts, P. S., Nieto, A., Chung, J., Choy, Y.-S., Reeve, M. P., Thiele, E., Egelhoff, J. C., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316951 · Cited by 1,001
Kwiatkowski, D. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.525 · Cited by 667
Jones, A. C., Shyamsundar, M. M., Thomas, M. W., Maynard, J., Idziaszczyk, S., Tomkins, S., Sampson, J. R., & Cheadle, J. P. (1999) · The American Journal of Human Genetics · doi:10.1086/302381 · Cited by 529
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 520
Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., Zonnenberg, B., Verhoef, S., Halley, D., & van den Ouweland, A. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201402 · Cited by 483
p27kip1 independently promotes neuronal differentiation and migration in the cerebral cortex
Nguyen, L., Besson, A., Heng, J. I.-T., Schuurmans, C., Teboul, L., Parras, C., Philpott, A., Roberts, J. M., & Guillemot, F. (2006) · Genes & Development · doi:10.1101/gad.377106 · Cited by 367
Diagnosis of Tuberous Sclerosis Complex
Roach, E. S., & Sparagana, S. P. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090301 · Cited by 281
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Cited by
Northrup, H., Krueger, D. A., Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., Kwiatkowski, D. J., Mowat, D., et al. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.08.001 · Cited by 1,502
Self-citationFranz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(12)61134-9 · Cited by 794
Self-citationNeurological and neuropsychiatric aspects of tuberous sclerosis complex
Curatolo, P., Moavero, R., & de Vries, P. J. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00069-1 · Cited by 600
Perivascular epithelioid cell neoplasms: pathology and pathogenesis
Folpe, A. L., & Kwiatkowski, D. J. (2010) · Human Pathology · doi:10.1016/j.humpath.2009.05.011 · Cited by 401
The genomic landscape of tuberous sclerosis complex
Martin, K. R., Zhou, W., Bowman, M. J., Shih, J., Au, K. S., Dittenhafer-Reed, K. E., Sisson, K. A., Koeman, J., Weisenberger, D. J., Cottingham, S. L., et al. (2017) · Nature Communications · doi:10.1038/ncomms15816 · Cited by 238
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Metadata
- Authors
- Au, K. S., Williams, A. T., Roach, E. S., Batchelor, L., Sparagana, S. P., Delgado, M. R., Wheless, J. W., Baumgartner, J. E., Roa, B. B., Wilson, C. M., Smith-Knuppel, T. K., Cheung, M.-Y. C., Whittemore, V. H., King, T. M., & Northrup, H.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 9
- Issue
- 2
- Pages
- 88-100
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W1975045883
- Cited by
- 458
- References
- 34
- FWCI
- 10.88
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. https://app.cochat.ai/papers/10.1097/gim.0b013e31803068c7
- The paper
- Au, K. S., Williams, A. T., Roach, E. S., Batchelor, L., Sparagana, S. P., Delgado, M. R., Wheless, J. W., Baumgartner, J. E., Roa, B. B., Wilson, C. M., Smith-Knuppel, T. K., Cheung, M.-Y. C., Whittemore, V. H., King, T. M., & Northrup, H. (2007). Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genetics in Medicine. https://doi.org/10.1097/gim.0b013e31803068c7
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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.
