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Page 1
Machine-guided design of cell-type-targeting cis-regulatory elements.
Gosai SJ, Castro RI, Fuentes N, Butts JC, Mouri K, Alasoadura M, Kales S, Nguyen TTL, Noche RR, Rao AS, Joy MT, Sabeti PC, Reilly SK, Tewhey R. Gosai SJ, et al. Among authors: noche rr. Nature. 2024 Oct;634(8036):1211-1220. doi: 10.1038/s41586-024-08070-z. Epub 2024 Oct 23. Nature. 2024. PMID: 39443793 Free PMC article.
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. Among authors: noche rr. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Towards a synthetic chloroplast.
Agapakis CM, Niederholtmeyer H, Noche RR, Lieberman TD, Megason SG, Way JC, Silver PA. Agapakis CM, et al. Among authors: noche rr. PLoS One. 2011 Apr 20;6(4):e18877. doi: 10.1371/journal.pone.0018877. PLoS One. 2011. PMID: 21533097 Free PMC article.
Multibow: digital spectral barcodes for cell tracing.
Xiong F, Obholzer ND, Noche RR, Megason SG. Xiong F, et al. Among authors: noche rr. PLoS One. 2015 May 26;10(5):e0127822. doi: 10.1371/journal.pone.0127822. eCollection 2015. PLoS One. 2015. PMID: 26010570 Free PMC article.
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
Simonian R, Pannia E, Hammoud R, Noche RR, Cui X, Kranenburg E, Kubant R, Ashcraft P, Wasek B, Bottiglieri T, Dowling JJ, Anderson GH. Simonian R, et al. Among authors: noche rr. Hum Mol Genet. 2023 Apr 20;32(9):1575-1588. doi: 10.1093/hmg/ddac308. Hum Mol Genet. 2023. PMID: 36637428 Free PMC article.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. Shaheen R, et al. Among authors: noche rr. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840364 Free PMC article.
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