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 4/2/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,757 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 |
|---|---|---|---|
| Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti | Monica H Wojcik | 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 |
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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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| Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach | Archana Rai | 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 |
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| K-mer analysis of long-read alignment pileups for structural variant genotyping | Adam C. English | DOI |
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| Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | Caroline Nava | DOI |
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| Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder | Pérez Baca María Del Rocío | DOI |
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| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |