Ian M. Campbell

PhenoID, a language model normalizer of physical examinations from genetics clinical notes

PhenoID is a transformer-based NLP system that normalizes dysmorphology exam findings into HPO terms, achieving state-of-the-art performance on phenotype extraction from clinical notes.

Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression

The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.