Laura D. Gauthier

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Integrating 730,947 exome sequences with clinical literature improves gene discovery

  medRxiv · 2026-03-25 · 2 citations

• Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

  Nature Communications · 2025-10-31 · 11 citations

• Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsPreprint

  medRxiv · 2025-05-21 · 6 citations

• P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis

  Genetics in Medicine Open · 2025-01-01

• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

  Nature Neuroscience · 2024-10-01 · 56 citations