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 |
|---|---|---|---|
| Novel variants in VARS2 demonstrate the phenotypic variability of a rare mitochondriopathy that responds to valine supplementation | PMID Journal of Inherited Metabolic Disease |
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| Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti | Monica H Wojcik | DOI |
PMID HGG Adv. |
| Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy | PMID Neuromuscul Disord |
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| Analytical validation of germline small variant detection using long-read HiFi genome sequencing | Nathan Hammond | PMID Genome Research |
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| Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice | Zaneta Matuszek | PMID Nature Genetics |
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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 |
PMID Nature Genetics |
| HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model | Lein N H Dofash | PMID Brain |
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| Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation | Zain Dardas | PMID American Journal of Human Genetics |
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| 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 |
PMID HGG Advances |
| Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL | Elizabeth Carbonell | PMID HGG Advances |
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| The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships | Eleanor C Broeren | PMID Genetics in Medicine Open |
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| K-mer analysis of long-read alignment pileups for structural variant genotyping | Adam C. English | DOI |
PMID Nature Communications |
| Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing | David R. Murdock | PMID NPJ Genom Med |
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| Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria | Timothy Bergquist | DOI |
PMID Genetics in Medicine |
| Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia | PMID American Journal of Hematology |