CNVineta: a data mining tool for large case-control copy number variation datasets. - Michael Wittig; Ingo Helbig; Stefan Schreiber; Andre Franke (Bioinform., 2010)

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. - Sebastian Köhler 001; Sandra C. Doelken; Christopher J. Mungall; Sebastian Bauer 002; Helen V. Firth; Isabelle Bailleul-Forestier; Graeme C. M. Black; Danielle L. Brown; Michael Brudno; Jennifer Campbell; David R. FitzPatrick; Janan T. Eppig; et al. (Nucleic Acids Res., 2014)

The Human Phenotype Ontology in 2017. - Sebastian Köhler 001; Nicole A. Vasilevsky; Mark Engelstad; Erin Foster; Julie A. McMurry; Ségolène Aymé; Gareth Baynam; Susan M. Bello; Cornelius F. Boerkoel; Kym M. Boycott; Michael Brudno; Orion J. Buske; et al. (Nucleic Acids Res., 2017)

A Framework for Analysis, Ontological Evaluation, and Visualization in Preparation to Predictive Analytics in Pediatric Brain Tumor Research. - Alex S. Felmeister; Angela J. Waanders; Jennifer L. Mason; Jeff Stevens; L. Charles Bailey; Shiva Ganesan; Ingo Helbig (BIBM, 2020)

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. - Kent A. Shefchek; Nomi L. Harris; Michael A. Gargano; Nicolas Matentzoglu; Deepak R. Unni; Matthew H. Brush; Dan Keith; Tom Conlin; Nicole A. Vasilevsky; Xingmin Aaron Zhang; James P. Balhoff; Larry Babb; et al. (Nucleic Acids Res., 2020)

The Human Phenotype Ontology in 2021. - Sebastian Köhler 001; Michael A. Gargano; Nicolas Matentzoglu; Leigh Carmody; David Lewis-Smith; Nicole A. Vasilevsky; Daniel Danis; Ganna Balagura; Gareth Baynam; Amy M. Brower; Tiffany J. Callahan; Christopher G. Chute; et al. (Nucleic Acids Res., 2021)

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care. - James M. Havrilla; Anbumalar Singaravelu; Dennis M. Driscoll; Leonard Minkovsky; Ingo Helbig; Livija Medne; Kai Wang; Ian D. Krantz; Bimal R. Desai (BMC Medical Informatics Decis. Mak., 2022)

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding. - Maryam Daniali; Peter D. Galer; David Lewis-Smith; Shridhar Parthasarathy; Edward Kim 006; Dario D. Salvucci; Jeffrey M. Miller; Scott Haag; Ingo Helbig (Artif. Intell. Medicine, 2023)

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis. - Robert Wang; Ingo Helbig; Andrew C. Edmondson; Lan Lin; Yi Xing (Briefings Bioinform., 2023)