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 4/6/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 3,760 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 |
|---|---|---|---|---|
| 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 | |
| Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data | Zhenxian Zheng | DOI |
Baylor College of Medicine Research Center | |
| Transcriptome-wide outlier detection approach diagnosed four individuals with RNU4atac-opathies and uncovered a putative novel disease-gene relationship Multi-site | DOI |
Baylor College of Medicine Research Center; Broad Institute; GREGoR Stanford Site | ||
| Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities | DOI |
Broad Institute |