E-LIB Suche - Ergebnisse für: Bryen, Samantha J

1

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

Zhang, Katharine Y. ; Joshi, Himanshu ; Marchant, Rhett G....
European Journal of Human Genetics. , 2024

2

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/..

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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

Dawes, Ruebena ; Bournazos, Adam M ; Bryen, Samantha J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925382/. , 2023

Link: http://www.ncbi.nlm.nih...

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/..

11

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/..

12

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/..

13

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

Bryen, Samantha J ; Yuen, Michaela ; Joshi, Himanshu...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9284458/. , 2022

Link: http://www.ncbi.nlm.nih...

14

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/..

15

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..