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 | Preprint | Publication |
|---|---|---|---|
| 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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| Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | Andrew K Sobering | PMID Human Genetics and Genomics Advances |
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| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| Time to make rare disease diagnosis accessible to all | Heidi Rehm | PMID Nat Med |
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| Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes | Michael Zech | PMID Ann Neurol |
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| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO | Tassos Grammatikopoulos | PMID Hepatology Communications |
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| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
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| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
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| Aberrant recursive splicing in a human disease locus | Philip Boone, Ricardo Harripaul | DOI |
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| Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon | DOI |
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| Gene-based calibration of high-throughput functional assays for clinical variant classification | Daniel Zeiberg | DOI |
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| De novo variant identification from duo long-read sequencing | DOI |
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| Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data | Zhenxian Zheng | DOI |
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| Transcriptome-wide outlier detection approach diagnosed four individuals with RNU4atac-opathies and uncovered a putative novel disease-gene relationship | DOI |
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| Genome Sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease | Georgia Pitsava | DOI |