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 Sort descending | First author | Preprint | Publication |
|---|---|---|---|
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | Jil Stegman | PMID NPJ Genom Med |
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| Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy | Joel A Morales-Rosado | PMID Am J Hum Genet |
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| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |
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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
PMID Genet Med |
| Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria | Timothy Bergquist | DOI |
PMID Genetics in Medicine |
| Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome | Fuki Hisama | DOI |
PMID Geroscience |
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | Takayasu Mori | DOI |
PMID Kidney International Reports |
| Closing the gap: Solving complex medically relevant genes at scale | Medhat Mahmoud | DOI |
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| Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. | Javier A Muntadas | PMID Case Reports BCM Medical Genomics |
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| Considerations for reporting variants in novel candidate genes identified during clinical genomic testing | Jessica Chong | DOI |
PMID Genetics in Medicine |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
PMID Human Genomics |
| De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome | Miriam Bertrand | PMID Mol Syndromol. |
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| De novo variant identification from duo long-read sequencing | 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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| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Yuyang Chen | DOI |
PMID Nature |