Thomas Defay

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

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.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

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

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.

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

J. Vockley, Thomas Defay, A. Goldenberg, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

John Reynders, Jignesh R. Parikh, Piotr Sliz, 2021, HGG advances.

Data sharing to advance gene‐targeted therapies in rare diseases

R. Finkel, A. McGuire, T. Yu, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies

T. Yu, J. Vockley, Annemieke Aartsma-Rus, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Response to Grosse et al.

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