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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 3 |
2022 | 3 |
2023 | 1 |
2024 | 0 |
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6 results
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Page 1
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006247. doi: 10.1101/mcs.a006247. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36376065
Free PMC article.
Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.
Kumari A, Ayala-Ramirez R, Zenteno JC, Huffman K, Sasik R, Ayyagari R, Borooah S.
Kumari A, et al.
Sci Rep. 2022 Sep 10;12(1):15273. doi: 10.1038/s41598-022-19351-w.
Sci Rep. 2022.
PMID: 36088481
Free PMC article.
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Characterizing cis-regulatory elements using single-cell epigenomics.
Preissl S, Gaulton KJ, Ren B.
Preissl S, et al.
Nat Rev Genet. 2023 Jan;24(1):21-43. doi: 10.1038/s41576-022-00509-1. Epub 2022 Jul 15.
Nat Rev Genet. 2023.
PMID: 35840754
Free PMC article.
Review.
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R.
Biswas P, et al.
PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct.
PLoS Genet. 2021.
PMID: 34662339
Free PMC article.
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Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC.
Borooah S, et al.
Ophthalmol Retina. 2021 Oct;5(10):1043-1051. doi: 10.1016/j.oret.2020.12.012. Epub 2020 Dec 22.
Ophthalmol Retina. 2021.
PMID: 33352318
Free PMC article.
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Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.
Biswas P, Borooah S, Matsui H, Voronchikhina M, Zhou J, Zawaydeh Q, Raghavendra PB, Ferreyra H, Riazuddin SA, Wahlin K, Frazer KA, Ayyagari R.
Biswas P, et al.
Hum Mutat. 2021 Feb;42(2):189-199. doi: 10.1002/humu.24146. Epub 2020 Dec 13.
Hum Mutat. 2021.
PMID: 33252167
Free PMC article.
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