The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome
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Cites
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602
Wilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.575 · Cited by 377
Novel de novo SHANK3 mutation in autistic patients
Gauthier, J., Spiegelman, D., Piton, A., Lafrenière, R. G., Laurent, S., St‐Onge, J., Lapointe, L., Hamdan, F. F., Cossette, P., Mottron, L., et al. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30822 · Cited by 321
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
Boccuto, L., Lauri, M., Sarasua, S. M., Skinner, C. D., Buccella, D., Dwivedi, A., Orteschi, D., Collins, J. S., Zollino, M., Visconti, P., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.175 · Cited by 240
Self-citationPostsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies
Grabrucker, A. M., Schmeisser, M. J., Schoen, M., & Boeckers, T. M. (2011) · Trends in Cell Biology · doi:10.1016/j.tcb.2011.07.003 · Cited by 233
Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002173 · Cited by 224
Luciani, J. J., de Mas, P., Depetris, D., Mignon-Ravix, C., Bottani, A., Prieur, M., Jonveaux, P., Philippe, A., Bourrouillou, G., de Martinville, B., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.9.690 · Cited by 170
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33253 · Cited by 138
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood
Philippe, A., Boddaert, N., Vaivre-Douret, L., Robel, L., Danon-Boileau, L., Malan, V., de Blois, M.-C., Heron, D., Colleaux, L., Golse, B., et al. (2008) · Pediatrics · doi:10.1542/peds.2007-2584 · Cited by 108
Cited by
Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders
Nelson, S. B., & Valakh, V. (2015) · Neuron · doi:10.1016/j.neuron.2015.07.033 · Cited by 1,001
Wang, X., Bey, A. L., Katz, B. M., Badea, A., Kim, N., David, L. K., Duffney, L. J., Kumar, S., Mague, S. D., Hulbert, S. W., et al. (2016) · Nature Communications · doi:10.1038/ncomms11459 · Cited by 320
Silverman, J. L., Pride, M. C., Hayes, J. E., Puhger, K. R., Butler-Struben, H. M., Baker, S., & Crawley, J. N. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.66 · Cited by 215
The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders
Mosconi, M. W., Wang, Z., Schmitt, L. M., Tsai, P., & Sweeney, J. A. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00296 · Cited by 112
Hung, L. Y., & Margolis, K. G. (2024) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-023-00857-1 · Cited by 96
Metadata
- Authors
- Sarasua, S. M., Boccuto, L., Sharp, J. L., Dwivedi, A., Chen, C.-F., Rollins, J. D., Rogers, R. C., Phelan, K., & DuPont, B. R.
- Venue
- Human Genetics
- Published
- 2014-01-31
- Volume
- 133
- Issue
- 7
- Pages
- 847-859
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W1988158595
- Cited by
- 190
- References
- 9
- FWCI
- 6.93
- Type
- journal article
- Language
- en
- Open access
- closed
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Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome. https://app.cochat.ai/papers/10.1007/s00439-014-1423-7
- The paper
- Sarasua, S. M., Boccuto, L., Sharp, J. L., Dwivedi, A., Chen, C.-F., Rollins, J. D., Rogers, R. C., Phelan, K., & DuPont, B. R. (2014). Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome. Human Genetics. https://doi.org/10.1007/s00439-014-1423-7
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.
