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Carmody, Leigh
108
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Online (108)
Mediatypes
Articles (Online) (31)
OpenAccess-fulltext (77)
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1
OBO Foundry food ontology interconnectivity:
Dooley, Damion
;
Andrés-Hernández, Liliana
;
Bordea, Georgeta
...
Semantic Web. , 2024
Link:
https://doi.org/10.3233/..
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2
Node-degree aware edge sampling mitigates inflated classifi..:
Cappelletti, Luca
;
Rekerle, Lauren
;
Fontana, Tommaso
...
Bioinformatics Advances. , 2024
Link:
https://doi.org/10.1093/..
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3
An expectation–maximization framework for comprehensive pre..:
Karlebach, Guy
;
Carmody, Leigh
;
Sundaramurthi, Jagadish Chandrabose
...
Bioinformatics. 39 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1093/..
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4
Standards for the classification of pathogenicity of somati..:
Horak, Peter
;
Griffith, Malachi
;
Danos, Arpad M.
...
Genetics in Medicine. 24 (2022) 9 - p. 1991 , 2022
Link:
https://doi.org/10.1016/..
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5
Standards for the classification of pathogenicity of somati..:
Horak, Peter
;
Griffith, Malachi
;
Danos, Arpad M.
...
Genetics in Medicine. 24 (2022) 5 - p. 986-998 , 2022
Link:
https://doi.org/10.1016/..
?
6
Correction to: A guide to writing systematic reviews of rar..:
Atalaia, Antonio
;
Thompson, Rachel
;
Corvo, Alberto
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
7
Characterizing Long COVID: Deep Phenotype of a Complex Cond..:
Deer, Rachel R
;
Rock, Madeline A
;
Vasilevsky, Nicole
...
eBioMedicine. 74 (2021) - p. 103722 , 2021
Link:
https://doi.org/10.1016/..
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8
Supervised learning with word embeddings derived from PubMe..:
Ravanmehr, Vida
;
Blau, Hannah
;
Cappelletti, Luca
...
NAR Genomics and Bioinformatics. 3 (2021) 4 - p. , 2021
Link:
https://doi.org/10.1093/..
?
9
A guide to writing systematic reviews of rare disease treat..:
Atalaia, Antonio
;
Thompson, Rachel
;
Corvo, Alberto
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
10
Plain-language medical vocabulary for precision diagnosis:
Vasilevsky, Nicole A.
;
Foster, Erin D.
;
Engelstad, Mark E.
...
Nature Genetics. 50 (2018) 4 - p. 474-476 , 2018
Link:
https://doi.org/10.1038/..
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11
Expansion of the Human Phenotype Ontology (HPO) knowledge b..:
Köhler, Sebastian
;
Carmody, Leigh
;
Vasilevsky, Nicole
...
Nucleic Acids Research. 47 (2018) D1 - p. D1018-D1027 , 2018
Link:
https://doi.org/10.1093/..
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12
Phenopacket-tools: Building and validating GA4GH Phenopacke..:
Danis, Daniel
;
Jacobsen, Julius O. B.
;
Wagner, Alex H.
...
PLOS ONE. 18 (2023) 5 - p. e0285433 , 2023
Link:
https://doi.org/10.1371/..
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13
The Medical Action Ontology: A tool for annotating and anal..:
Carmody, Leigh C.
;
Gargano, Michael A.
;
Toro, Sabrina
...
Med. 4 (2023) 12 - p. 913-927.e3 , 2023
Link:
https://doi.org/10.1016/..
?
14
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, Ferdinand
;
Morgan, Patricia
;
Chaudhari, Bimal P.
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 2 - p. 231-242 , 2022
Link:
https://doi.org/10.1002/..
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15
Significantly different clinical phenotypes associated with..:
Carmody, Leigh C.
;
Blau, Hannah
;
Danis, Daniel
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
1-15