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/vufind/Search/Results?lookfor=%22Bagnall%2C+Richard+D%22&type=Person&sort=year
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PubPharm (119)
1
Predicting the impact of rare variants on RNA splicing in CAGI6
enthalten in:
bioRxiv.org
| 2024
von
Lord, J.
|
Oquendo, C.
|
Wai, H.
| +24
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2
Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (
DSP
) truncating variant
enthalten in:
bioRxiv.org
| 2024
von
Hoorntje, E.
|
Burns, C.
|
Marsili, L.
| +46
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3
The Role of Genetic Testing in Diagnosis and Care of Inherited Cardiac Conditions in a Specialised Multidisciplinary Clinic
enthalten in:
bioRxiv.org
| 2024
von
Stafford, F.
|
Krishnan, N.
|
Richardson, E.
| +16
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4
Transcription Factors Leave Their Mark on the Heart
enthalten in:
Circulation. Genomic and precision medicine
| 2024
von
Chang, Y.
|
Francois, M.
|
Bagnall, R.
CommentOn: Circ Genom Precis Med. 2024 Apr;17(2):e004404. - PMID 38353104
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5
A rare splice-site variant in cardiac troponin-T (
TNNT2)
: The need for ancestral diversity in genomic reference datasets
enthalten in:
bioRxiv.org
| 2024
von
Butters, A.
|
Thomson, K.
|
Harrington, F.
| +28
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6
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
enthalten in:
Journal of medical genetics
| 2024
von
Chang, Y.
|
Wacker, J.
|
Ingles, J.
| +7
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7
Predicting the impact of rare variants on RNA splicing in CAGI6
enthalten in:
Human genetics
| 2024
von
Lord, J.
|
Oquendo, C.
|
Wai, H.
| +24
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8
A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic
enthalten in:
European heart journal. Case reports
| 2023
von
Hespe, S.
|
Isbister, J.
|
Duflou, J.
| +5
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9
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
enthalten in:
NPJ genomic medicine
| 2023
von
Singer, E.
|
Crowe, J.
|
Holliday, M.
| +13
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10
The New South Wales Sudden Cardiac Arrest Registry : A Data Linkage Cohort Study
enthalten in:
Heart, lung & circulation
| 2023
von
Leslie, F.
|
Avis, S.
|
Bagnall, R.
| +16
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Circulation. Genomic and precision medicine
6
Genetics in medicine : official journal of the ...
6
Genome medicine
6
Heart rhythm
6
Journal of the American College of Cardiology
6
bioRxiv.org
5
Circulation. Cardiovascular genetics
5
International journal of cardiology
4
Annals of neurology
4
Circulation / Cardiovascular genetics
4
Epilepsia
4
Human pathology
4
Journal of molecular and cellular cardiology
3
BMC medical genetics
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Heart, lung and circulation
3
HeartRhythm case reports
3
The New England journal of medicine
2
Brain pathology
2
Brain pathology (Zurich, Switzerland)
2
European journal of human genetics : EJHG
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Thema
61
Journal Article
47
Research Support, Non-U.S. Gov't
10
Sudden cardiac death
10
genetics
9
Carrier Proteins
9
genetic testing
8
Genetic testing
8
Letter
8
Review
7
Comment
7
myosin-binding protein C
6
Case Reports
5
9007-49-2
5
Arrhythmia
5
Cardiac Myosins
5
DNA
5
EC 3.6.1.-
5
EC 3.6.4.1
5
MYH7 protein, human
5
Myosin Heavy Chains
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Erscheinungszeitraum
118
2000-
1
1900-1999
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Sprache
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