Publications
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 7/1/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 4,285 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 | GREGoR Center(s) involved |
|---|---|---|---|---|
| RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort Multi-site | Dena R Matalon, Angela L Duker | DOI |
PMID Genetics in Medicine |
Broad Institute; GREGoR Stanford Site |
| Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples | PMID American Journal of Human Genetics |
University of Washington Center for Rare Disease Research | ||
| De novo variants associated with autosomal recessive conditions: case series and implications for genetic testing and counseling Multi-site | PMID Am J Med Genet A |
Broad Institute; GREGoR Stanford Site | ||
| Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations Multi-site | Rodrigo Mendez | PMID Human Genetics and Genomics (HGG) Advances |
Broad Institute; GREGoR Stanford Site | |
| Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations | PMID Genome Medicine |
Baylor College of Medicine Research Center | ||
| Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies | Elsa Leitão | PMID Nature Genetics |
Broad Institute | |
| De novo variant identification from duo long-read sequencing | DOI |
PMID AJHG |
University of California, Irvine - GREGoR | |
| Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders | PMID American Journal of Human Genetics |
Baylor College of Medicine Research Center | ||
| De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder | PMID European Journal of Human Genetics |
GREGoR Stanford Site | ||
| Neurodevelopmental features associated with de novo RAPGEF2 variants | PMID Genetics in Medicine |
University of California, Irvine - GREGoR | ||
| An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families | Haowei Du and Ming Yin Lun | DOI |
PMID Genome Medicine |
Baylor College of Medicine Research Center |
| Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives | PMID Genetics in Medicine |
Broad Institute | ||
| GREGoR: accelerating genomics for rare diseases Multi-site | Moez Dawood | DOI |
PMID Nature |
Baylor College of Medicine Research Center; Broad Institute; University of California, Irvine - GREGoR; GREGoR Stanford Site; University of Washington Center for Rare Disease Research; Data Coordinating Center; National Human Genome Research Institute |
| Genome Sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease | Georgia Pitsava | DOI |
PMID Genetics in Medicine |
University of California, Irvine - GREGoR |
| Transcriptome-wide outlier detection approach diagnosed four individuals with RNU4atac-opathies and uncovered a putative novel disease-gene relationship Multi-site | Taylor Arriaga, Rodrigo Mendez | DOI |
PMID American Journal of Human Genetics |
Baylor College of Medicine Research Center; Broad Institute; GREGoR Stanford Site |