The Genomedata format for storing large-scale functional genomics data. - Michael M. Hoffman; Orion J. Buske; William Stafford Noble (Bioinform., 2010)

Variant detection and the Autism sequencing project. - Orion J. Buske; Misko Dzamba; Justin Foong; Lynette Lau; Marc Fiume; Christian Marshall; Susan Walker; Aparna Prasad; Michael Brudno (BMC Bioinform., 2011)

Exploratory analysis of genomic segmentations with Segtools. - Orion J. Buske; Michael M. Hoffman; Nadia Ponts; Karine G. Le Roch; William Stafford Noble (BMC Bioinform., 2011)

Unsupervised pattern discovery in human chromatin structure through genomic segmentation. - Michael M. Hoffman; Orion J. Buske; Jie Wang; Zhiping Weng; Jeff A. Bilmes; William Stafford Noble (BCB, 2013)

Identification of deleterious synonymous variants in human genomes. - Orion J. Buske; AshokKumar Manickaraj; Seema Mital; Peter N. Ray; Michael Brudno (Bioinform., 2015)

Towards a Directory of Rare Disease Specialists: Identifying Experts from Publication History. - Zihan Wang; Michael Brudno; Orion J. Buske (MLHC, 2017)

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)

Computational Methods for Predicting and Validating the Causes of Mendelian Disease. - Orion J. Buske (2017)

Zebra-Llama: A Context-Aware Large Language Model for Democratizing Rare Disease Knowledge. - Karthik Soman; Andrew Langdon; Catalina Villouta; Chinmay Agrawal; Lashaw Salta; Braian Peetoom; Gianmarco Bellucci; Orion J. Buske (CoRR, 2024)