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Down syndrome and the complexity of genome dosage imbalance
Antonarakis SE.. Nature reviews. Genetics, 2016-12-28
Topic: Brain proteins, microglia and lab models
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down syndrome phenotypic spectrum. The elucidation of the molecular mechanisms that cause or modify the risk for different Down syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Antonarakis, S. E. (2017). Down syndrome and the complexity of genome dosage imbalance. Nature reviews. Genetics. https://doi.org/10.1038/nrg.2016.154
Vancouver
Antonarakis SE. Down syndrome and the complexity of genome dosage imbalance. Nature reviews. Genetics. 2017. doi:10.1038/nrg.2016.154. PMID: 28029161.
BibTeX
@article{antonarakis2017-28029161,
author = {Antonarakis, S. E.},
title = {{Down syndrome and the complexity of genome dosage imbalance}},
journal = {Nature reviews. Genetics},
year = {2017},
doi = {10.1038/nrg.2016.154},
pmid = {28029161},
url = {https://doi.org/10.1038/nrg.2016.154}
}
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Key findings
- Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications.
- The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance.
- Studies of Down syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down syndrome phenotypic spectrum.
- The elucidation of the molecular mechanisms that cause or modify the risk for different Down syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.
Why it matters
This review discusses how having an extra copy of chromosome 21 leads to the features of Down syndrome, including Alzheimer's disease, and how studying this could reveal ways to modify the risk of these features. It describes a research approach and does not report a treatment or cure.
Study details
- Evidence strengthLow
How this study scored 51/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Nature reviews. Genetics) |
| Journal's citation record | 4 / 4 | Nature Reviews Genetics: journal h-index 522 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 302 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 27.5 citations a year over 11 year(s) since 2017 |
| Impact for its field and year | 3 / 6 | Cited 5.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 10 other studies in this library |
| Still being cited | 3 / 4 | Cited 74 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Stylianos E. Antonarakis: h-index 146 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Geneva: institution h-index 1,049 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 28029161) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 51 / 100 | — |
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