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 |
|---|---|---|---|
| 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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| Domain specific phenotypic expansion associated with variants in MACF1 | DOI |
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| Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts | Matthew J Welland | 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 |
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| Accelerating the Genomics for Rare Diseases | 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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| Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity | Maria C. Foss-Freitas | DOI |
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| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |