The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Open accessAbstract
Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.
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Citations
Cites
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
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299
Genetic Evaluation of Intellectual Disabilities
Moeschler, J. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.01.002 · Cited by 87
Cited by
Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-019-0686-8 · Cited by 1,768
Identification, Evaluation, and Management of Children With Autism Spectrum Disorder
Hyman, S. L., Levy, S. E., Myers, S. M., COUNCIL ON CHILDREN WITH DISABILITIES, S. O. D. A. B. P., Kuo, D. Z., Apkon, S., Davidson, L. F., Ellerbeck, K. A., Foster, J. E. A., Noritz, G. H., et al. (2020) · Pediatrics · doi:10.1542/peds.2019-3447 · Cited by 1,798
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a3a · Cited by 929
Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0554-6 · Cited by 695
Metadata
- Authors
- Manning, M., & Hudgins, L.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2010-11
- Volume
- 12
- Issue
- 11
- Pages
- 742-745
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W1980096475
- Cited by
- 664
- References
- 3
- FWCI
- 27.66
- Type
- journal article
- Language
- en
- Update notices
- addendum (2020-12-01)
- Open access
- bronze
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 4097 d)
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- Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine. https://doi.org/10.1097/gim.0b013e3181f8baad
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.
