The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Abstract
A high-resolution analysis of copy number variation in patients with ADHD reveals new gene associations, few de novo mutations, and overlap with genes implicated in other disorders such as autism.
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Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
Self-citationStructural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · cited 3×
“Moreover, in our previous experience with this approach, >90% of stringent CNV calls could be validated (34, 35).”
BackgroundInfluentialSelf-citationAutism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421
Pober, B. R. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0903074 · Cited by 848
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
Hofvander, B., Delorme, R., Chaste, P., Nydén, A., Wentz, E., Ståhlberg, O., Herbrecht, E., Stopin, A., Anckarsäter, H., Gillberg, C., et al. (2009) · BMC Psychiatry · doi:10.1186/1471-244x-9-35 · Cited by 812
Baum, A. E., Akula, N., Cabanero, M., Cardona, I., Corona, W., Klemens, B., Schulze, T. G., Cichon, S., Rietschel, M., Nöthen, M. M., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002012 · Cited by 700
Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · cited 1×
“These observations, along with the growing recognition of the role of gene dosage imbalances in other neuropsychiatric disorders (26), set the stage for testing the hypothesis that copy number variations (CNVs) may also be involved in ADHD risk.”
BackgroundSelf-citationA genome-wide scan for common alleles affecting risk for autism
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq307 · Cited by 593
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Cited by
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) · Nature Genetics · doi:10.1038/ng.2711 · Cited by 2,263
Genetics of attention deficit hyperactivity disorder
Faraone, S. V., & Larsson, H. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0070-0 · Cited by 1,338
Attention deficit hyperactivity disorder
Thapar, A., & Cooper, M. (2016) · The Lancet · doi:10.1016/s0140-6736(15)00238-x · Cited by 1,043
Genetic architecture in autism spectrum disorder
Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545
Self-citationJiang, Y.-H., Yuen, R. K. C., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J., Mei, J., Shi, Y., He, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.012 · Cited by 474
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Metadata
- Authors
- Lionel, A. C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., Gazzellone, M., Carson, A. R., Howe, J. L., Wang, Z., Wei, J., Stewart, A. F. R., Roberts, R., McPherson, R., Fiebig, A., Franke, A., Schreiber, S., Zwaigenbaum, L., Fernandez, B. A., Roberts, W., Arnold, P. D., Szatmari, P., Marshall, C. R., Schachar, R., & Scherer, S. W.
- Venue
- Science Translational Medicine
- Published
- 2011-08-10
- Volume
- 3
- Issue
- 95
- Pages
- 95ra75-95ra75
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2099613443
- Cited by
- 371
- References
- 25
- FWCI
- 24.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD. https://app.cochat.ai/papers/10.1126/scitranslmed.3002464
- The paper
- Lionel, A. C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., Gazzellone, M., Carson, A. R., Howe, J. L., Wang, Z., Wei, J., Stewart, A. F. R., Roberts, R., McPherson, R., Fiebig, A., Franke, A., Schreiber, S., Zwaigenbaum, L., Fernandez, B. A., . . . Scherer, S. W. (2011). Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3002464
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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.
