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 |
|---|---|---|---|
| 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 |
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| K-mer analysis of long-read alignment pileups for structural variant genotyping | Adam C. English | DOI |
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| Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria | Timothy Bergquist | 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 |
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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 |