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Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Antony I, Qian X, Bonacina J, Papandile F, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: doan rn. Cell Genom. 2024 Aug 14;4(8):100609. doi: 10.1016/j.xgen.2024.100609. Epub 2024 Jul 16. Cell Genom. 2024. PMID: 39019033 Free PMC article.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: doan rn. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Return of genetic research results in 21,532 individuals with autism.
Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B; SPARK Consortium; Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Wright JR, et al. Genet Med. 2024 Oct;26(10):101202. doi: 10.1016/j.gim.2024.101202. Epub 2024 Jun 29. Genet Med. 2024. PMID: 38958063 Free article.
Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA, Cheng Y, Morillo K, Doan RN, Kenny CJ, Foutz A, Kim C, Cohen ML, Appleby BS, Walsh CA, Safar JG, Huang AY, Miller MB. McDonough GA, et al. Among authors: doan rn. bioRxiv [Preprint]. 2024 Jun 29:2024.06.25.600668. doi: 10.1101/2024.06.25.600668. bioRxiv. 2024. Update in: Acta Neuropathol. 2024 Jul 24;148(1):10. doi: 10.1007/s00401-024-02774-2 PMID: 38979287 Free PMC article. Updated. Preprint.
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.
Kim SN, Viswanadham VV, Doan RN, Dou Y, Bizzotto S, Khoshkhoo S, Huang AY, Yeh R, Chhouk B, Truong A, Chappell KM, Beaudin M, Barton A, Akula SK, Rento L, Lodato M, Ganz J, Szeto RA, Li P, Tsai JW, Hill RS, Park PJ, Walsh CA. Kim SN, et al. Among authors: doan rn. bioRxiv [Preprint]. 2023 Nov 6:2023.11.06.565899. doi: 10.1101/2023.11.06.565899. bioRxiv. 2023. PMID: 37986891 Free PMC article. Preprint.
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Qian X, Bonacina J, Papandile F, Antony I, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: doan rn. medRxiv [Preprint]. 2023 Sep 22:2023.09.19.23295780. doi: 10.1101/2023.09.19.23295780. medRxiv. 2023. Update in: Cell Genom. 2024 Aug 14;4(8):100609. doi: 10.1016/j.xgen.2024.100609 PMID: 37790480 Free PMC article. Updated. Preprint.
35 results