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 |
|---|---|---|---|---|
| Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | Caroline Nava | DOI |
PMID Nature Genetics |
Broad Institute |
| HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model | Lein N H Dofash | PMID Brain |
Broad Institute | |
| Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation | Zain Dardas | PMID American Journal of Human Genetics |
Baylor College of Medicine Research Center | |
| 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 |
Broad Institute |
| Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL | Elizabeth Carbonell | PMID HGG Advances |
Broad Institute | |
| The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships Multi-site | Eleanor C Broeren | PMID Genetics in Medicine Open |
Broad Institute; University of Washington Center for Rare Disease Research | |
| K-mer analysis of long-read alignment pileups for structural variant genotyping | Adam C. English | DOI |
PMID Nature Communications |
Baylor College of Medicine Research Center |
| Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing | David R. Murdock | PMID NPJ Genom Med |
University of Washington Center for Rare Disease Research | |
| Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria | Timothy Bergquist | DOI |
PMID Genetics in Medicine |
Broad Institute |
| Genome-wide profiling of highly similar paralogous genes using HiFi sequencing | Xiao Chen | PMID Nature Communications |
University of California, Irvine - GREGoR | |
| Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia | PMID American Journal of Hematology |
Broad Institute | ||
| Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum | Iris Verbinnen | PMID Am J Hum Genet. |
University of Washington Center for Rare Disease Research | |
| Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection Multi-site | Shloka Negi | DOI |
PMID American Journal of Human Genetics |
Broad Institute; University of California, Irvine - GREGoR |
| Sequence variants in HECTD1 result in a variable neurodevelopmental disorder | Gazelle Zerafati-Jahromi | PMID The American Journal of Human Genetics |
University of California, Irvine - GREGoR | |
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets | Ben Weisburd | DOI |
PMID Genetics in Medicine |
Broad Institute |