Publications
A list of publications citing one or more GREGoR grants, or listing the GREGoR Consortium as a banner author is available via this PubMed query.
This information was last compiled on 7/1/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 4,285 papers. For more detailed publication metrics, please refer to GREGoR’s iCite results. Hover over the column headings for a definition of each of these: Total Pubs, Pubs Per Year, Cites Per Year, Relative Citation Ratio (RCR), Weighted RCR.
Click on column labels to sort the table accordingly.
| Title | First author | Preprint | Publication | GREGoR Center(s) involved |
|---|---|---|---|---|
| Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns | Colby T Marvin | DOI |
University of Washington Center for Rare Disease Research | |
| An extensible laboratory information management system for data harmonization across research centers: The ICTS-Dashboard | King, Charles Hadley | DOI |
University of California, Irvine - GREGoR | |
| Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset Multi-site | Ben Heavner and Marsha Wheeler | DOI |
Baylor College of Medicine Research Center; Broad Institute; University of California, Irvine - GREGoR; GREGoR Stanford Site; University of Washington Center for Rare Disease Research; Data Coordinating Center | |
| Kauro, a graph-based chatbot for high-fidelity information transmission conversations | King, Charles Hadley | DOI |
University of California, Irvine - GREGoR | |
| Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families | Shaghayegh T. Beheshti | DOI |
Baylor College of Medicine Research Center | |
| Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles | Jiaoyang Xu | DOI |
Baylor College of Medicine Research Center | |
| Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions Multi-site | DOI |
Broad Institute; University of Washington Center for Rare Disease Research | ||
| Constellation illuminates rare disease genetics | DOI |
Baylor College of Medicine Research Center | ||
| Saturation genome editing of BARD1 resolves VUS and provides insight into BRACA1-BARD1 tumor suppression | DOI |
University of Washington Center for Rare Disease Research | ||
| Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive neurodevelopmental disorders with epilepsy | Elsa Leitão | DOI |
Broad Institute | |
| Aberrant recursive splicing in a human disease locus | Philip Boone, Ricardo Harripaul | DOI |
Broad Institute | |
| Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon | DOI |
Baylor College of Medicine Research Center | ||
| Domain specific phenotypic expansion associated with variants in MACF1 Multi-site | DOI |
Baylor College of Medicine Research Center; GREGoR Stanford Site | ||
| Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts | Matthew J Welland | DOI |
Broad Institute | |
| Gene-based calibration of high-throughput functional assays for clinical variant classification Multi-site | Daniel Zeiberg | DOI |
Broad Institute; University of Washington Center for Rare Disease Research |