Monica Wojcik

59PUBLICATIONS
321CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Disease surveillanceInfant and child healthCentral nervous systemGenome structure and regulation
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (59)

|Oct 25, 2026
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.

|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.

|May 26, 2026
Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

|May 21, 2026
What comes next? Follow through care after genetic diagnosis in infancy.

Pageof 10

Frequent Collaborators

8 joint publications

Alan H Beggs

6 joint publications

Alissa M D'Gama

6 joint publications

Katrin Õunap

6 joint publications

Anne O'Donnell-Luria