Catherine A Brownstein

20PUBLICATIONS
125CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthAdolescent healthNeurology and neuromuscular diseasesPacific Peoples social determinants of health
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Publications (20)

|Jul 30, 2026
LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield.

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

|Jun 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

|Dec 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Catherine A Brownstein, Caspar I van der Made, Kristin Cabral

|Nov 27, 2025
Patient-Oriented Priorities for Pediatric Erythromelalgia: A Priority-Setting Process.

Don Daniel Ocay, Meghan Halpin, Ella Ford

|Aug 05, 2025
Variability in the Diagnosis and Treatment of Interstitial Cystitis/Bladder Pain Syndrome: Internet Survey.

Eleanora Melkonian, A Leigh Garrett, Erika Kline

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Frequent Collaborators

6 joint publications

Alan H Beggs

4 joint publications

Monica Wojcik

4 joint publications

Pankaj B Agrawal

4 joint publications

Casie A Genetti