Flavia M Facio

5PUBLICATIONS
50CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Epidemiological methodsGene expression (incl. microarray and other genome-wide approaches)Artificial life and complex adaptive systemsMedical infection agents (incl. prions)
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Publications (5)

|Feb 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.

Vincent D Ustach, Maria J Guillen Sacoto, Stephen McGee

|Jul 18, 2025
Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome.

Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati

|Feb 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome.

Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati

|Jul 28, 2023
Applications of artificial intelligence in clinical laboratory genomics.

Swaroop Aradhya, Flavia M Facio, Hillery Metz

|Oct 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Mary C Whitman, Brenda J Barry, Caroline D Robson

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Frequent Collaborators

2 joint publications

Jamie I Vandenberg

2 joint publications

Brett M Kroncke

2 joint publications

Samskruthi R Padigepati

2 joint publications

Chai-Ann Ng