The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Open accessAbstract
The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect subtle chromosome rearrangements (less than 5 Mb). The presence of subtle DNA copy number changes was investigated by array-CGH in 50 patients with learning disability and dysmorphism, employing a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Twelve copy number abnormalities were identified in 12 patients (24% of the total): seven deletions (six apparently de novo and one inherited from a phenotypically normal parent) and five duplications (one de novo and four inherited from phenotypically normal parents). Altered segments ranged in size from those involving a single clone to regions as large as 14 Mb. No recurrent deletion or duplication was identified within this cohort of patients. On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Vissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379977 · Cited by 469
Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas
Hodgson, G., Hager, J. H., Volik, S., Hariono, S., Wernick, M., Moore, D., Albertson, D. G., Pinkel, D., Collins, C., Hanahan, D., et al. (2001) · Nature Genetics · doi:10.1038/ng771 · Cited by 294
Cited by
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Self-citationStrong 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
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990
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
The neurodevelopmental model of schizophrenia: update 2005
Rapoport, J. L., Addington, A. M., Frangou, S., & Psych, M. R. C. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001642 · Cited by 993
Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605
Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Lee, C., Iafrate, A. J., & Brothman, A. R. (2007) · Nature Genetics · doi:10.1038/ng2092 · Cited by 388
Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.214 · Cited by 331
Self-citationAmiel, J., Rio, M., Pontual, L. D., Redon, R., Malan, V., Boddaert, N., Plouin, P., Carter, N. P., Lyonnet, S., Munnich, A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/515582 · Cited by 319
Self-citationJacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043166 · Cited by 305
Self-citationSebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260
Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics
Bejjani, B. A., & Shaffer, L. G. (2006) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.060029 · Cited by 173
Genetic Evaluation of Intellectual Disabilities
Moeschler, J. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.01.002 · Cited by 87
The search for autism disease genes
Wassink, T. H., Brzustowicz, L. M., Bartlett, C. W., & Szatmari, P. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20041 · Cited by 89
Murthy, S. K., Nygren, A. O. H., El Shakankiry, H. M., Schouten, J. P., Al Khayat, A. I., Ridha, A., & Al Ali, M. T. (2007) · Cytogenetic and Genome Research · doi:10.1159/000097433 · Cited by 79
Genetic causes of intellectual disability in a birth cohort: A population‐based study
Karam, S. M., Riegel, M., Segal, S. L., Félix, T. M., Barros, A. J. D., Santos, I. S., Matijasevich, A., Giugliani, R., & Black, M. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37011 · Cited by 69
Clayton-Smith, J., Giblin, C., Smith, R. A., Dunn, C., & Willatt, L. (2010) · Clinical Dysmorphology · doi:10.1097/mcd.0b013e32833a1e3c · Cited by 64
Self-citation
Metadata
- Authors
- Shaw-Smith, C., Redon, R., Rickman, L., Rio, M., Willatt, L., Fiegler, H., Firth, H., Sanlaville, D., Winter, R., Colleaux, L., Bobrow, M., & Carter, N. P.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2004-04
- Volume
- 41
- Issue
- 4
- Pages
- 241-248
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2108637300
- Cited by
- 513
- References
- 2
- FWCI
- 32.16
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
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.
