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 |
|---|---|---|---|---|
| Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. | Javier A Muntadas | PMID Case Reports BCM Medical Genomics |
University of Washington Center for Rare Disease Research | |
| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | Dmitrijs Rots | PMID Am J Hum Genet |
Broad Institute | |
| Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement | Christy W LaFlamme | DOI |
PMID Nature Communications |
University of Washington Center for Rare Disease Research |
| A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants | Maria Carla Borroto | PMID Genes |
Broad Institute | |
| Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation | PMID Ann Clin Transl Neurol |
Broad Institute | ||
| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders | Julie Jurgens | DOI |
PMID Genetics in Medicine |
Broad Institute |
| Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations | Sarah Stenton | DOI |
PMID Genetics in Medicine |
Broad Institute |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Multi-site | Yuyang Chen | DOI |
PMID Nature |
Broad Institute; University of California, Irvine - GREGoR; GREGoR Stanford Site |
| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
PMID American Journal of Human Genetics |
GREGoR Stanford Site |
| Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study | Elizabeth E. Blue | PMID Birth Defects Research |
University of Washington Center for Rare Disease Research | |
| Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci | Christopher M. Grochowski | DOI |
PMID Cell Genom. |
Baylor College of Medicine Research Center |
| 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 |
Baylor College of Medicine Research Center | ||
| Considerations for reporting variants in novel candidate genes identified during clinical genomic testing Multi-site | Jessica Chong | DOI |
PMID Genetics in Medicine |
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 |
| Genome Sequencing for Diagnosing Rare Diseases | Monica H Wojcik | DOI |
PMID New England Journal of Medicine |
Broad Institute |
| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | Bassani S. | DOI |
PMID Genome Med. |
Baylor College of Medicine Research Center |