- GREGoR: Accelerating Genomics for Rare Diseases
- Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine
- Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience
- Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort
- Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females
