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/vufind/Search/Results?lookfor=%22O%27Neill%2C+Matthew+J%22&type=Person&sort=year
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PubPharm (27)
1
Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies
enthalten in:
bioRxiv.org
| 2024
von
O’Neill, M.
|
Sala, L.
|
Denjoy, I.
| +16
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2
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an
SCN5A
negative charge: structural insights into the gating pore hypothesis
enthalten in:
bioRxiv.org
| 2024
von
Glazer, A.
|
Yang, T.
|
Li, B.
| +11
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3
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge : structural insights into the gating pore hypothesis
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Glazer, A.
|
Yang, T.
|
Li, B.
| +11
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4
Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for
KCNH2
-LQTS Risk Stratification
enthalten in:
bioRxiv.org
| 2024
von
O’Neill, M.
|
Ng, C.
|
Aizawa, T.
| +38
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5
Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
O'Neill, M.
|
Ng, C.
|
Aizawa, T.
| +38
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6
Multi-site validation of a functional assay to adjudicate
SCN5A
Brugada Syndrome-associated variants
enthalten in:
bioRxiv.org
| 2023
von
Ma, J.
|
O’Neill, M.
|
Richardson, E.
| +17
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7
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Ma, J.
|
O'Neill, M.
|
Richardson, E.
| +17
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8
High-throughput reclassification of
SCN5A
variants
enthalten in:
bioRxiv.org
| 2023
von
Glazer, A.
|
Wada, Y.
|
Li, B.
| +10
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9
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants
enthalten in:
bioRxiv.org
| 2023
von
O’Neill, M.
|
Yang, T.
|
Laudeman, J.
| +4
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10
ParSE-seq : A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
O'Neill, M.
|
Yang, T.
|
Laudeman, J.
| +4
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bioRxiv : the preprint server for biology
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2
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