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/vufind/Search/Results?lookfor=%22Baynam%2C+Gareth%22&type=Person&sort=year
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PubPharm (236)
1
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
enthalten in:
bioRxiv.org
| 2024
von
Jacobsen, J.
|
Baudis, M.
|
Baynam, G.
| +44
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2
The landscape of genomic structural variation in Indigenous Australians
enthalten in:
bioRxiv.org
| 2024
von
Reis, A.
|
Rapadas, M.
|
Hammond, J.
| +14
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3
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
enthalten in:
Scientific reports
| 2024
von
Moynihan, D.
|
Monaco, S.
|
Ting, T.
| +16
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4
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
enthalten in:
Nature communications
| 2024
von
Bhattacharjee, R.
|
Jolly, L.
|
Corbett, M.
| +21
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5
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
enthalten in:
Nature genetics
| 2024
von
Baynam, G.
|
Julkowska, D.
|
Bowdin, S.
| +22
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6
An evaluation of GPT models for phenotype concept recognition
enthalten in:
BMC medical informatics and decision making
| 2024
von
Groza, T.
|
Caufield, H.
|
Gration, D.
| +5
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7
Stigma associated with genetic testing for rare diseases-causes and recommendations
enthalten in:
Frontiers in genetics
| 2024
von
Baynam, G.
|
Gomez, R.
|
Jain, R.
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8
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction
enthalten in:
HGG advances
| 2024
von
Farley, K.
|
Forbes, C.
|
Shaw, N.
| +5
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9
A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder
enthalten in:
bioRxiv.org
| 2024
von
Mahdi, S.
|
Caldeira, E.
|
Matthews, H.
| +13
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10
The Human Phenotype Ontology in 2024 : phenotypes around the world
enthalten in:
Nucleic acids research
| 2024
von
Gargano, M.
|
Matentzoglu, N.
|
Coleman, B.
| +98
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Orphanet journal of rare diseases
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Source code for biology and medicine
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3
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3
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