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 |
|---|---|---|---|---|
| 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 | ||
| Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity | Maria C. Foss-Freitas | DOI |
Broad Institute | |
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
Broad Institute | |
| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |
GREGoR Stanford Site | |
| Closing the gap: Solving complex medically relevant genes at scale | Medhat Mahmoud | DOI |
Baylor College of Medicine Research Center | |
| Targeted HiFi Panel of complex medical genes | DOI |
Baylor College of Medicine Research Center | ||
| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |
Baylor College of Medicine Research Center |