Ingo Helbig
Orcid: 0000-0001-8486-0558
According to our database1,
Ingo Helbig
authored at least 9 papers
between 2010 and 2023.
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Bibliography
2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Briefings Bioinform., September, 2023
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.
Artif. Intell. Medicine, May, 2023
2022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.
BMC Medical Informatics Decis. Mak., 2022
2021
2020
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res., 2020
A Framework for Analysis, Ontological Evaluation, and Visualization in Preparation to Predictive Analytics in Pediatric Brain Tumor Research.
Proceedings of the IEEE International Conference on Bioinformatics and Biomedicine, 2020
2017
2014
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res., 2014
2010
Bioinform., 2010