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 |
|---|---|---|---|
| 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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| 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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| 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 |
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| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |
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| Closing the gap: Solving complex medically relevant genes at scale | Medhat Mahmoud | DOI |
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| De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. | Mengqi Ma | DOI |
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| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |