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/vufind/Search/Results?lookfor=%22Deisseroth%2C+Cole+A%22&type=Person&sort=year
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PubPharm (17)
1
Literature-based predictions of Mendelian disease therapies
enthalten in:
American journal of human genetics
| 2023
von
Deisseroth, C.
|
Lee, W.
|
Kim, J.
| +5
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2
Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships
enthalten in:
bioRxiv.org
| 2022
von
Deisseroth, C.
|
Nayak, A.
|
Bliss, N.
| +10
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3
Literature-based predictions of treatments for genetic disease pathology
enthalten in:
bioRxiv.org
| 2022
von
Deisseroth, C.
|
Lee, W.
|
Kim, J.
| +4
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4
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
enthalten in:
Annals of neurology
| 2022
von
Deisseroth, C.
|
Lerma, V.
|
Magyar, C.
| +12
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5
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
enthalten in:
Annals of Neurology
| 2022
von
Deisseroth, C.
|
Lerma, V.
|
Magyar, C.
| +12
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6
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
enthalten in:
bioRxiv.org
| 2021
von
Birgmeier, J.
|
Steinberg, E.
|
Bodle, E.
| +24
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7
AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
enthalten in:
bioRxiv.org
| 2020
von
Birgmeier, J.
|
Haeussler, M.
|
Deisseroth, C.
| +12
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8
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
enthalten in:
Science translational medicine
| 2020
von
Birgmeier, J.
|
Haeussler, M.
|
Deisseroth, C.
| +12
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9
AVADA : toward automated pathogenic variant evidence retrieval directly from the full-text literature
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2020
von
Birgmeier, J.
|
Deisseroth, C.
|
Hayward, L.
| +8
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10
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
enthalten in:
bioRxiv.org
| 2020
von
Jagadeesh, K.
|
Birgmeier, J.
|
Guturu, H.
| +4
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3
natural language processing
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1
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automatic variant retrieval
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drug repurposing
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2010-2019
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