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 7/8/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 2,398 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 Sort ascending | Preprint | Publication |
|---|---|---|---|
| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO | Tassos Grammatikopoulos | PMID Hepatology Communications |
|
| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |
|
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | Takayasu Mori | DOI |
PMID Kidney International Reports |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
|
| Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations | Sultan Cingoz | PMID European Journal of Medical Genetics |
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| Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection | Shloka Negi | DOI |
PMID American Journal of Human Genetics |
| Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |
| Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia | Scott Barish | PMID The American Journal of Human Genetics |
|
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
PMID Human Genomics |
| Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases | Sarah Stenton | DOI |
PMID HGG Advances |
| Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations | Sarah Stenton | DOI |
PMID Genetics in Medicine |
| Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
| GGPS1-associated muscular dystrophy with and without hearing loss | Rauan Kaiyrzhanov | PMID Ann Clin Transl Neurol |
|
| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
PMID American Journal of Human Genetics |