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Dawes, Ruebena
20  results:
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1

De novo variants in the RNU4-2 snRNA cause a frequent neuro..:

Chen, Yuyang ; Dawes, Ruebena ; Kim, Hyung Chul...
Nature.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Refining clinically relevant parameters for mis-splicing ri..:

Zhang, Katharine Y. ; Joshi, Himanshu ; Marchant, Rhett G....
European Journal of Human Genetics.  32 (2024)  8 - p. 972-979 , 2024
Link: https://doi.org/10.1038/..
 
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3

SpliceVault predicts the precise nature of variant-associat..:

Dawes, Ruebena ; Bournazos, Adam M. ; Bryen, Samantha J....
Nature Genetics.  55 (2023)  2 - p. 324-332 , 2023
Link: https://doi.org/10.1038/..
 
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4

Empirical prediction of variant-activated cryptic splice do..:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T.
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine.  24 (2022)  1 - p. 130-145 , 2022
Link: https://doi.org/10.1016/..
 
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6

Prevalence, parameters, and pathogenic mechanisms for splic..:

Bryen, Samantha J. ; Yuen, Michaela ; Joshi, Himanshu...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100125 , 2022
Link: https://doi.org/10.1016/..
 
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7

Pro‐inflammatory dopamine‐2 receptor‐specific T cells in pa..:

Pilli, Deepti ; Zou, Alicia ; Dawes, Ruebena...
Clinical & Translational Immunology.  9 (2020)  12 - p. , 2020
Link: https://doi.org/10.1002/..
 
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8

Gene discovery informatics toolkit defines candidate genes ..:

Dawes, Ruebena ; Lek, Monkol ; Cooper, Sandra T.
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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9

Systematic identification of disease-causing promoter and u..:

Martin-Geary, Alexandra C ; Blakes, Alexander J M ; Dawes, Ruebena...
https://research.manchester.ac.uk/en/publications/26e0892f-4d9b-473d-bf5f-39d9437c78eb.  , 2023
Link: https://research.manches..
 
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10

SpliceVault:

Dawes, Ruebena ; Joshi, Himanshu
doi:10.5281/zenodo.7359028.  , 2022
Link: https://zenodo.org/recor..
 
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11

90% of variant-activated cryptic donors are also (mis)used ..:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T
https://zenodo.org/record/5149622.  , 2021
Link: https://zenodo.org/recor..
 
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12

40K-RNA:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T
doi:10.5281/zenodo.5587850.  , 2021
Link: https://zenodo.org/recor..
 
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13

40K-RNA:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T
doi:10.5281/zenodo.5587850.  , 2021
Link: https://zenodo.org/recor..
 
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14

40K-RNA:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T
doi:10.5281/zenodo.5587850.  , 2021
Link: https://zenodo.org/recor..
 
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15

40K-RNA:

Dawes, Ruebena ; Joshi, Himanshu ; Cooper, Sandra T
doi:10.5281/zenodo.5587850.  , 2021
Link: https://zenodo.org/recor..
 
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