Chris M. Kunard

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2022, American journal of human genetics.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

J. Weir, S. Kingsmore, K. Hall, 2021, The New England journal of medicine.

Response to Grosse et al.

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2023, American Journal of Human Genetics.