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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Zheng Y, McCarroll SA, Loh PR. Mukamel RE, et al. Among authors: barton ar. bioRxiv [Preprint]. 2021 Jan 19:2021.01.19.427332. doi: 10.1101/2021.01.19.427332. bioRxiv. 2021. PMID: 33501449 Free PMC article. Updated. Preprint.
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.
Zhang MJ, Durvasula A, Chiang C, Koch EM, Strober BJ, Shi H, Barton AR, Kim SS, Weissbrod O, Loh PR, Gazal S, Sunyaev S, Price AL. Zhang MJ, et al. Among authors: barton ar. medRxiv [Preprint]. 2023 Dec 4:2023.12.04.23299391. doi: 10.1101/2023.12.04.23299391. medRxiv. 2023. PMID: 38106023 Free PMC article. Preprint.
Large mosaic copy number variations confer autism risk.
Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR. Sherman MA, et al. Among authors: barton ar. Nat Neurosci. 2021 Feb;24(2):197-203. doi: 10.1038/s41593-020-00766-5. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432194 Free PMC article.
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. Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01437-x. Nat Neurosci. 2023. PMID: 37644260 No abstract available.
21 results