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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 2
2010 1
2011 2
2012 2
2015 1
2019 1
2020 5
2021 1
2022 2
2023 5
2024 1

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23 results

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Page 1
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.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: noche r. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
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.
Machine-guided design of synthetic cell type-specific cis-regulatory elements.
Gosai SJ, Castro RI, Fuentes N, Butts JC, Kales S, Noche RR, Mouri K, Sabeti PC, Reilly SK, Tewhey R. Gosai SJ, et al. Among authors: noche rr. bioRxiv [Preprint]. 2023 Aug 9:2023.08.08.552077. doi: 10.1101/2023.08.08.552077. bioRxiv. 2023. PMID: 37609287 Free PMC article. Preprint.
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.
Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.
Falcone GJ, Kirsch E, Acosta JN, Noche RB, Leasure A, Marini S, Chung J, Selim M, Meschia JF, Brown DL, Worrall BB, Tirschwell DL, Jagiella JM, Schmidt H, Jimenez-Conde J, Fernandez-Cadenas I, Lindgren A, Slowik A, Gill D, Holmes M, Phuah CL, Petersen NH, Matouk Md CN, Gunel M, Sansing L, Bennett D, Chen Z, Sun LL, Clarke R, Walters RG, Gill TM, Biffi A, Kathiresan S, Langefeld CD, Woo D, Rosand J, Sheth KN, Anderson CD; International Stroke Genetics Consortium. Falcone GJ, et al. Among authors: noche rb. Ann Neurol. 2020 Jul;88(1):56-66. doi: 10.1002/ana.25740. Epub 2020 May 7. Ann Neurol. 2020. PMID: 32277781 Free PMC article.
23 results