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BAGNALL, RICHARD D.
267  Ergebnisse:
Personensuche X
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1

Predicting the impact of rare variants on RNA splicing in C..:

Lord, Jenny ; Oquendo, Carolina Jaramillo ; Wai, Htoo A....
Human Genetics.  , 2024
Link: https://doi.org/10.1007/..
 
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2

P150: ClinGen hereditary cardiovascular disease gene curati..:

Waddell, Amber ; Hespe, Sophie ; Asatryan, Babken...
Genetics in Medicine Open.  2 (2024)  - p. 101047 , 2024
Link: https://doi.org/10.1016/..
 
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3

Variants in non-coding DNA in inherited heart disease:

Bagnall, Richard
Pathology.  56 (2024)  - p. S19-S20 , 2024
Link: https://doi.org/10.1016/..
 
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4

A multitiered analysis platform for genome sequencing: Desi..:

Austin, Rachel ; Brown, Jaye S. ; Casauria, Sarah...
Genetics in Medicine Open.  2 (2024)  - p. 101842 , 2024
Link: https://doi.org/10.1016/..
 
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5

ILAE Genetic Literacy Series: Postmortem Genetic Testing in..:

Bagnall, Richard D. ; Perucca, Piero ; for the ILAE Genetics Commission
Epileptic Disorders.  25 (2023)  4 - p. 472-479 , 2023
Link: https://doi.org/10.1002/..
 
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6

The burden of splice-disrupting variants in inherited heart..:

Singer, Emma S. ; Crowe, Joshua ; Holliday, Mira...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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7

A case series of patients with filamin-C truncating variant..:

Hespe, Sophie ; Isbister, Julia C ; Duflou, Johan...
European Heart Journal - Case Reports.  7 (2023)  12 - p. , 2023
Link: https://doi.org/10.1093/..
 
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8

Variant Location Is a Novel Risk Factor for Individuals Wit..:

Hoorntje, Edgar T. ; Burns, Charlotte ; Marsili, Luisa...
Circulation: Genomic and Precision Medicine.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1161/..
 
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9

Generation of an induced pluripotent stem cell line from a ..:

Li, Serena ; Fraser, Stuart ; Ranpura, Ginell...
Stem Cell Research.  71 (2023)  - p. 103153 , 2023
Link: https://doi.org/10.1016/..
 
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10

The New South Wales Sudden Cardiac Arrest Registry: A Data ..:

Leslie, Felicity ; Avis, Suzanne R. ; Bagnall, Richard D....
Heart, Lung and Circulation.  32 (2023)  9 - p. 1069-1075 , 2023
Link: https://doi.org/10.1016/..
 
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11

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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12

Identification and in-silico characterization of splice-sit..:

Rayani, Kaveh ; Davies, Brianna ; Cheung, Matthew...
European Journal of Human Genetics.  31 (2022)  5 - p. 512-520 , 2022
Link: https://doi.org/10.1038/..
 
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13

Rare sudden unexpected death in epilepsy SCN5A variants cau..:

Soh, Ming S. ; Bagnall, Richard D. ; Semsarian, Christopher...
Epilepsia.  63 (2022)  6 - p. , 2022
Link: https://doi.org/10.1111/..
 
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14

The role of genetic testing in diagnosis and care of inheri..:

Stafford, Fergus ; Krishnan, Neesha ; Richardson, Ebony...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

"Concealed cardiomyopathy" as a cause of previously unexpla..:

Isbister, Julia C. ; Nowak, Natalie ; Butters, Alexandra...
International Journal of Cardiology.  324 (2021)  - p. 96-101 , 2021
Link: https://doi.org/10.1016/..
 
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