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Bryen, Samantha J.
16
results:
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1
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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2
Genome and RNA sequencing boost neuromuscular diagnoses to ..:
Marchant, Rhett G.
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Bryen, Samantha J.
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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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3
Refining clinically relevant parameters for mis-splicing ri..:
Zhang, Katharine Y.
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Joshi, Himanshu
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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
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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.
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Zhang, Katharine
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Dziaduch, Gregory
...
Clinical Genetics. 103 (2023) 5 - p. 553-559 , 2023
Link:
https://doi.org/10.1111/..
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6
Case report: Adult-onset limb girdle muscular dystrophy in ..:
Katz, Matthew
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Waddell, Leigh B.
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Yuen, Michaela
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Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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7
Connective tissue presentation in two families expands the ..:
Evesson, Frances J
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Dziaduch, Gregory
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Bryen, Samantha J
...
Human Molecular Genetics. 32 (2023) 12 - p. 2084-2092 , 2023
Link:
https://doi.org/10.1093/..
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8
Standardized practices for RNA diagnostics using clinically..:
Bournazos, Adam M.
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Riley, Lisa G.
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Bommireddipalli, Shobhana
...
Genetics in Medicine. 24 (2022) 1 - p. 130-145 , 2022
Link:
https://doi.org/10.1016/..
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9
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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10
Prevalence, parameters, and pathogenic mechanisms for splic..:
Bryen, Samantha J.
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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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11
Pathogenic deep intronic MTM1 variant activates a pseudo-ex..:
Bryen, Samantha J.
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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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12
Expanding the disease phenotype of ADSSL1-associated myopat..:
Mroczek, Magdalena
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Durmus, Hacer
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Bijarnia-Mahay, Sunita
...
Neuromuscular Disorders. 30 (2020) 4 - p. 310-314 , 2020
Link:
https://doi.org/10.1016/..
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13
Translating Technical Innovations for Splicing Diagnostics ..:
Bournazos, Adam
;
Riley, Lisa G.
;
Bryen, Samantha J.
...
Pathology. 51 (2019) - p. S35 , 2019
Link:
https://doi.org/10.1016/..
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14
Importance of muscle biopsy to establish pathogenicity of D..:
Jones, Hannah F
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Bryen, Samantha J
;
Waddell, Leigh B
...
Neuromuscular Disorders. 29 (2019) 12 - p. 913-919 , 2019
Link:
https://doi.org/10.1016/..
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15
Recessive DES cardio/myopathy without myofibrillar aggregat..:
Riley, Lisa G.
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Waddell, Leigh B.
;
Ghaoui, Roula
...
European Journal of Human Genetics. 27 (2019) 8 - p. 1267-1273 , 2019
Link:
https://doi.org/10.1038/..
1-15