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 1/13/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,361 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 |
|---|---|---|---|
| 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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| 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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| 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 |
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| Genome Sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease | Georgia Pitsava | DOI |
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| Accelerating the Genomics for Rare Diseases | DOI |
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| Search for a genetic cause of variably protease-sensitive prionopathy | Yuan Lian | DOI |
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| Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation | Brandon T. Garcia | DOI |
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| 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 |
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| VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data | Haowei Du and Ming Yin Lun | DOI |