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 10/1/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 2,784 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 |
|---|---|---|---|
| Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes | Michael Zech | PMID Ann Neurol |
|
| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO | Tassos Grammatikopoulos | PMID Hepatology Communications |
|
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
|
| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
|
| Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles | Jiaoyang Xu | DOI |
|
| Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive neurodevelopmental disorders with epilepsy | Elsa Leitão | DOI |
|
| Aberrant recursive splicing in a human disease locus | Philip Boone, Ricardo Harripaul | DOI |
|
| Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon | DOI |
||
| Domain specific phenotypic expansion associated with variants in MACF1 | DOI |
||
| Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts | Matthew J Welland | DOI |
|
| Gene-based calibration of high-throughput functional assays for clinical variant classification | Daniel Zeiberg | DOI |
|
| De novo variant identification from duo long-read sequencing | DOI |
||
| Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data | Zhenxian Zheng | DOI |
|
| Transcriptome-wide outlier detection approach diagnosed four individuals with RNU4atac-opathies and uncovered a putative novel disease-gene relationship | DOI |
||
| Accelerating the Genomics for Rare Diseases | DOI |