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 Sort descending | Preprint | Publication |
|---|---|---|---|
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
PMID Genome Research |
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| Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations | PMID Molecular Genetics and Genomics |
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| Impact and characterization of serial structural variations across humans and great apes | PMID Nature Communications |
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| Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation | PMID Ann Clin Transl Neurol |
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| Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models | PMID Am J Hum Genet |
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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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| 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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| 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk | PMID Genetics in Medicine Open |
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| Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia | PMID American Journal of Hematology |
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| Detection of mosaic and population-level structural variants with Sniffles2 | PMID Nature Biotechnology |
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| De novo variant identification from duo long-read sequencing | DOI |
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| Accelerating the Genomics for Rare Diseases | DOI |
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| RARB-related cerebral palsy | PMID Genet Med |
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| 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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| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |