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 |
|---|---|---|---|
| Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation | PMID Ann Clin Transl Neurol |
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| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders | Julie Jurgens | DOI |
PMID Genetics in Medicine |
| Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations | Sarah Stenton | DOI |
PMID Genetics in Medicine |
| 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 |
| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
PMID American Journal of Human Genetics |
| Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study | Elizabeth E. Blue | PMID Birth Defects Research |
|
| Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci | Christopher M. Grochowski | DOI |
PMID Cell Genom. |
| 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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| Considerations for reporting variants in novel candidate genes identified during clinical genomic testing | Jessica Chong | DOI |
PMID Genetics in Medicine |
| Genome Sequencing for Diagnosing Rare Diseases | Monica H Wojcik | DOI |
PMID New England Journal of Medicine |
| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | Bassani S. | DOI |
PMID Genome Med. |
| Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | DOI |
PMID iScience |
| The Genetic Landscape of Familial Pulmonary Fibrosis | Qi Liu | PMID American Journal of Respiratory and Critical Care Medicine |
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| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension | Ian Copeland | PMID JCI Insight |
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| STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 | Helmut Grasberger | PMID Nature Genetics |