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Ingo Helbig
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2020 – today
- 2023
- [j8]Maryam Daniali
, Peter D. Galer, David Lewis-Smith
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding. Artif. Intell. Medicine 139: 102523 (2023) - [j7]Robert Wang, Ingo Helbig
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis. Briefings Bioinform. 24(5) (2023) - 2022
- [j6]James M. Havrilla
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care. BMC Medical Informatics Decis. Mak. 22-S(2): 198 (2022) - 2021
- [j5]Sebastian Köhler, Michael A. Gargano, Nicolas Matentzoglu, Leigh Carmody
The Human Phenotype Ontology in 2021. Nucleic Acids Res. 49(Database-Issue): D1207-D1217 (2021) - 2020
- [j4]Kent A. Shefchek
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Res. 48(Database-Issue): D704-D715 (2020) - [c1]Alex S. Felmeister, Angela J. Waanders, Jennifer L. Mason, Jeff Stevens, L. Charles Bailey, Shiva Ganesan, Ingo Helbig:
A Framework for Analysis, Ontological Evaluation, and Visualization in Preparation to Predictive Analytics in Pediatric Brain Tumor Research. BIBM 2020: 1943-1950
2010 – 2019
- 2017
- [j3]Sebastian Köhler, Nicole A. Vasilevsky
The Human Phenotype Ontology in 2017. Nucleic Acids Res. 45(Database-Issue): D865-D876 (2017) - 2014
- [j2]Sebastian Köhler
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42(Database-Issue): 966-974 (2014) - 2010
- [j1]Michael Wittig, Ingo Helbig, Stefan Schreiber, Andre Franke:
CNVineta: a data mining tool for large case-control copy number variation datasets. Bioinform. 26(17): 2208-2209 (2010)
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