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TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Brain. 2024 Jun 4:awae175. doi: 10.1093/brain/awae175. Online ahead of print.
Brain. 2024.
PMID: 38833623
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT.
Singh AK, et al. Among authors: shohfi jp.
Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405.
Brain. 2024.
PMID: 38128548
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A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Singh AK, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T, Furey CG, Reeves BC, Smith H, Ma S, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT.
Singh AK, et al. Among authors: shohfi jp.
medRxiv [Preprint]. 2023 Mar 20:2023.03.19.23287455. doi: 10.1101/2023.03.19.23287455.
medRxiv. 2023.
PMID: 36993720
Free PMC article.
Updated.
Preprint.
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