E-LIB Suche - Ergebnisse für: Cooper, Sandra T.

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

Unraveling facets of MECOM-associated syndrome: somatic gen..:

Venugopal, Parvathy ; Arts, Peer ; Fox, Lucy C....
Blood Advances. 8 (2024) 13 - p. 3437-3443 , 2024

Link: https://doi.org/10.1182/..

3

Genome sequencing enables diagnosis and treatment of SLC5A6..:

Riley, Lisa G. ; Sabui, Subrata ; Said, Hamid M....
European Journal of Human Genetics. 32 (2024) 8 - p. 947-953 , 2024

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

4

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/..

5

Cortar: quantifying and reporting variant associated mis-sp..:

Marchant, Rhett G. ; Bournazos, Adam M. ; Joshi, Himanshu.
Pathology. 56 (2024) - p. S21 , 2024

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

6

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/..

7

Biallelic ATP2B1 variants as a likely cause of a novel neur..:

Yap, Patrick ; Riley, Lisa G. ; Kakadia, Purvi M....
European Journal of Human Genetics. 32 (2023) 1 - p. 125-129 , 2023

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

8

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/..

9

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome ..:

Van Bergen, Nicole J. ; Gunanayagam, Karen ; Bournazos, Adam M....
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3582 , 2023

Link: https://doi.org/10.3390/..

10

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/..

11

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/..

12

Minimal expression of dysferlin prevents development of dys..:

Yasa, Joe ; Reed, Claudia E. ; Bournazos, Adam M....
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

13

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/..

14

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/..

15

Neonatal-lethal dilated cardiomyopathy due to a homozygous ..:

Yuen, Michaela ; Worgan, Lisa ; Iwanski, Jessika...
European Journal of Human Genetics. 30 (2022) 4 - p. 450-457 , 2022

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