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 |
|---|---|---|---|---|
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation Multi-site | DOI |
PMID Genome Research |
Baylor College of Medicine Research Center; GREGoR Stanford Site; University of Washington Center for Rare Disease Research | |
| Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia | Scott Barish | PMID The American Journal of Human Genetics |
Baylor College of Medicine Research Center | |
| Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA | Vijay Ganesh | DOI |
PMID New England Journal of Medicine |
Broad Institute |
| De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome | Miriam Bertrand | PMID Mol Syndromol. |
Broad Institute | |
| A genome-wide spectrum of tandem repeat expansions in 338,963 humans | Ya Cui | PMID Cell |
University of California, Irvine - GREGoR | |
| The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants | Francesca Furia | DOI |
PMID Clinical Genetics |
University of Washington Center for Rare Disease Research |
| Detection of mosaic and population-level structural variants with Sniffles2 | PMID Nature Biotechnology |
Baylor College of Medicine Research Center | ||
| Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases Multi-site | Clara van Karnebeek | PMID Orphanet J Rare Disease |
Broad Institute; GREGoR Stanford Site | |
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | Takayasu Mori | DOI |
PMID Kidney International Reports |
University of Washington Center for Rare Disease Research |
| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
PMID Genet Med |
Baylor College of Medicine Research Center |
| Impact and characterization of serial structural variations across humans and great apes | PMID Nature Communications |
Baylor College of Medicine Research Center | ||
| Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32 | Zain Dardas | DOI |
PMID Eur J Hum Genet |
Baylor College of Medicine Research Center |
| Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to multisystemic disorder | Marie Morimoto | PMID Am J Hum Genet. |
University of Washington Center for Rare Disease Research | |
| Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts | Elizabeth E. Blue | PMID Rare |
University of Washington Center for Rare Disease Research | |
| 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 |