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Bryen, Samantha J
20  results:
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1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  5 - p. 1250-1266 , 2024
Link: https://doi.org/10.1002/..
 
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2

A deep intronic variant in MME causes autosomal recessive C..:

Grosz, Bianca R. ; Parmar, Jevin M. ; Ellis, Melina...
Journal of the Peripheral Nervous System.  29 (2024)  2 - p. 262-274 , 2024
Link: https://doi.org/10.1111/..
 
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3

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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4

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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5

Compound heterozygous splicing variants expand the genotypi..:

Bryen, Samantha J. ; Zhang, Katharine ; Dziaduch, Gregory...
Clinical Genetics.  103 (2023)  5 - p. 553-559 , 2023
Link: https://doi.org/10.1111/..
 
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6

Connective tissue presentation in two families expands the ..:

Evesson, Frances J ; Dziaduch, Gregory ; Bryen, Samantha J...
Human Molecular Genetics.  32 (2023)  12 - p. 2084-2092 , 2023
Link: https://doi.org/10.1093/..
 
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7

Case report: Adult-onset limb girdle muscular dystrophy in ..:

Katz, Matthew ; Waddell, Leigh B. ; Yuen, Michaela...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Case report: Adult-onset limb girdle muscular dystrophy in ..:

Matthew Katz ; Leigh B. Waddell ; Michaela Yuen...
https://www.frontiersin.org/articles/10.3389/fneur.2023.1055639/full.  , 2023
Link: https://doi.org/10.3389/..
 
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9

Table_1_Case report: Adult-onset limb girdle muscular dystr..:

Matthew Katz ; Leigh B. Waddell ; Michaela Yuen...
doi:10.3389/fneur.2023.1055639.s001.  , 2023
Link: https://doi.org/10.3389/..
 
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10

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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11

A genetic basis is identified in 74% cases of paediatric hy..:

Wong, Wui-Kwan ; Bryen, Samantha J ; Bournazos, Adam...
Neuromuscular Disorders.  32 (2022)  9 - p. 707-717 , 2022
Link: https://doi.org/10.1016/..
 
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12

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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13

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

Samantha J. Bryen ; Michaela Yuen ; Himanshu Joshi...
http://www.sciencedirect.com/science/article/pii/S2666247722000410.  , 2022
Link: https://doi.org/10.1016/..
 
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14

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, Samantha J ; Ewans, Lisa J ; Pinner, Jason...
10.1002/humu.23938.  , 2021
Link: http://hdl.handle.net/10..
 
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15

Pathogenic deep intronic MTM1 variant activates a pseudo-ex..:

Bryen, Samantha J. ; Oates, Emily C. ; Evesson, Frances J....
European Journal of Human Genetics.  29 (2020)  1 - p. 61-66 , 2020
Link: https://doi.org/10.1038/..
 
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