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Year | Number of Results |
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2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517.
Cell Rep. 2022.
PMID: 35294868
Free PMC article.
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M.
Chen W, et al.
Elife. 2020 Feb 19;9:e48705. doi: 10.7554/eLife.48705.
Elife. 2020.
PMID: 32073399
Free PMC article.
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Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K+ channels.
Stevens SR, Longley CM, Ogawa Y, Teliska LH, Arumanayagam AS, Nair S, Oses-Prieto JA, Burlingame AL, Cykowski MD, Xue M, Rasband MN.
Stevens SR, et al.
Elife. 2021 Jun 28;10:e66491. doi: 10.7554/eLife.66491.
Elife. 2021.
PMID: 34180393
Free PMC article.
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