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 4/6/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 3,760 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
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
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
Displaying 46 to 60 of 158 total records