E-LIB Suche - Ergebnisse für: Waddell, Leigh B.

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Importance of muscle biopsy to establish pathogenicity of D..:

Jones, Hannah F ; Bryen, Samantha J ; Waddell, Leigh B...
Neuromuscular Disorders. 29 (2019) 12 - p. 913-919 , 2019

Link: https://doi.org/10.1016/..

9

Recessive DES cardio/myopathy without myofibrillar aggregat..:

Riley, Lisa G. ; Waddell, Leigh B. ; Ghaoui, Roula...
European Journal of Human Genetics. 27 (2019) 8 - p. 1267-1273 , 2019

Link: https://doi.org/10.1038/..

10

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/..

11

Pathogenic Abnormal Splicing Due to Intronic Deletions that..:

Bryen, Samantha J. ; Joshi, Himanshu ; Evesson, Frances J....
The American Journal of Human Genetics. 105 (2019) 3 - p. 573-587 , 2019

Link: https://doi.org/10.1016/..

12

Nemaline myopathy and distal arthrogryposis associated with..:

Sandaradura, Sarah A. ; Bournazos, Adam ; Mallawaarachchi, Amali...
Human Mutation. 39 (2018) 3 - p. 383-388 , 2018

Link: https://doi.org/10.1002/..

13

Congenital Titinopathy: Comprehensive characterization and ..:

Oates, Emily C. ; Jones, Kristi J. ; Donkervoort, Sandra...
Annals of Neurology. 83 (2018) 6 - p. 1105-1124 , 2018

Link: https://doi.org/10.1002/..

14

TOR1AIP1 as a cause of cardiac failure and recessive limb-g..:

Ghaoui, Roula ; Benavides, Tatiana ; Lek, Monkol...
Neuromuscular Disorders. 26 (2016) 8 - p. 500-503 , 2016

Link: https://doi.org/10.1016/..

15

Expanding the phenotype of GMPPB mutations:

Cabrera-Serrano, Macarena ; Ghaoui, Roula ; Ravenscroft, Gianina...
Brain. 138 (2015) 4 - p. 836-844 , 2015

Link: https://doi.org/10.1093/..