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 |
|---|---|---|---|
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
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| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
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| Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B) | Danny Miller | PMID J Bone Miner Res. |
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| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
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| Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking | Kym M Boycott | PMID Hum Mutat |
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| Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases | Danny Miller | PMID J Med Genet. |
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| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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| Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency | Yoel Gofin | PMID Hum Mutat. |
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| Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations | Sultan Cingoz | PMID European Journal of Medical Genetics |
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| Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | Andrew K Sobering | PMID Human Genetics and Genomics Advances |
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| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| Time to make rare disease diagnosis accessible to all | Heidi Rehm | PMID Nat Med |
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| Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes | Michael Zech | PMID Ann Neurol |
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| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO | Tassos Grammatikopoulos | PMID Hepatology Communications |
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| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |