Deep Phenotyping in 1p36 Deletion Syndrome
Article Properties
Cite
Shim, Youngkyu, et al. “Deep Phenotyping in 1p36 Deletion Syndrome”. Annals of Child Neurology, vol. 28, no. 4, 2020, pp. 131-7, https://doi.org/10.26815/acn.2020.00108.
Shim, Y., Go, Y. J., Kim, S. Y., Kim, H., Hwang, H., Choi, J., Lim, B. C., Kim, K. J., & Chae, J.-H. (2020). Deep Phenotyping in 1p36 Deletion Syndrome. Annals of Child Neurology, 28(4), 131-137. https://doi.org/10.26815/acn.2020.00108
Shim Y, Go YJ, Kim SY, Kim H, Hwang H, Choi J, et al. Deep Phenotyping in 1p36 Deletion Syndrome. Annals of Child Neurology. 2020;28(4):131-7.
Journal Category
Medicine
Internal medicine
Neurosciences
Biological psychiatry
Neuropsychiatry
Neurology
Diseases of the nervous system
Refrences
| Title | Journal | Journal Categories | Citations | Publication Date |
|---|---|---|---|---|
| 1p36 deletion syndrome: an update | 2015 | |||
| Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36 | PLOS ONE |
| 36 | 2014 |
| Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications | Brain and Development |
| 37 | 2015 |
Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome | Clinical Genetics |
| 46 | 2007 |
| Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions | Human Molecular Genetics |
| 58 | 1999 |
Citations
| Title | Journal | Journal Categories | Citations | Publication Date |
|---|---|---|---|---|
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome | Clinical Genetics |
| 2024 | |
Ontologizing health systems data at scale: making translational discovery a reality | npj Digital Medicine |
| 2 | 2023 |
PRDM16
Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study | Circulation: Genomic and Precision Medicine |
| 2023 | |
Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report | International Journal of Environmental Research and Public Health |
| 2021 |
Citations Analysis
The category
Medicine: Medicine (General): Medical technology 2
is the most commonly referenced area in studies that cite this article. The first research to cite this article was titled Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report and was published in 2021. The most recent citation comes from a 2024 study titled Novel copy number variations and phenotypes of infantile epileptic spasms syndrome. This article reached its peak citation in 2023, with 2 citations. It has been cited in 4 different journals, 25% of which are open access. Among related journals, the Clinical Genetics cited this research the most, with 1 citations. The chart below illustrates the annual citation trends for this article.