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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2.
Genet Med. 2021.
PMID: 33531666
Free PMC article.
Somatic genomic changes in single Alzheimer's disease neurons.
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA.
Miller MB, et al.
Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20.
Nature. 2022.
PMID: 35444284
Free PMC article.
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Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Girskis KM, Stergachis AB, DeGennaro EM, Doan RN, Qian X, Johnson MB, Wang PP, Sejourne GM, Nagy MA, Pollina EA, Sousa AMM, Shin T, Kenny CJ, Scotellaro JL, Debo BM, Gonzalez DM, Rento LM, Yeh RC, Song JHT, Beaudin M, Fan J, Kharchenko PV, Sestan N, Greenberg ME, Walsh CA.
Girskis KM, et al. Among authors: rento lm.
Neuron. 2021 Oct 20;109(20):3239-3251.e7. doi: 10.1016/j.neuron.2021.08.005. Epub 2021 Sep 2.
Neuron. 2021.
PMID: 34478631
Free PMC article.
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The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA.
Rodin RE, et al. Among authors: rento lm.
Nat Neurosci. 2021 Feb;24(2):176-185. doi: 10.1038/s41593-020-00765-6. Epub 2021 Jan 11.
Nat Neurosci. 2021.
PMID: 33432195
Free PMC article.
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Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA.
Rodin RE, et al. Among authors: rento lm.
Nat Neurosci. 2021 Apr;24(4):611. doi: 10.1038/s41593-021-00830-8.
Nat Neurosci. 2021.
PMID: 33753946
Free PMC article.
No abstract available.
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Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA.
Rodin RE, et al. Among authors: rento lm.
Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01437-x.
Nat Neurosci. 2023.
PMID: 37644260
No abstract available.
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