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 4/2/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,757 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 |
|---|---|---|---|
| A genome-wide spectrum of tandem repeat expansions in 338,963 humans | Ya Cui | PMID Cell |
|
| The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants | Francesca Furia | DOI |
PMID Clinical Genetics |
| Detection of mosaic and population-level structural variants with Sniffles2 | PMID Nature Biotechnology |
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| Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases | Clara van Karnebeek | PMID Orphanet J Rare Disease |
|
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | Takayasu Mori | DOI |
PMID Kidney International Reports |
| 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 |
| Impact and characterization of serial structural variations across humans and great apes | PMID Nature Communications |
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| 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 |
| 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. |
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| Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts | Elizabeth E. Blue | PMID Rare |
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| Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. | Javier A Muntadas | PMID Case Reports BCM Medical Genomics |
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| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | Dmitrijs Rots | PMID Am J Hum Genet |
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| Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement | Christy W LaFlamme | DOI |
PMID Nature Communications |
| A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants | Maria Carla Borroto | PMID Genes |
|
| Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation | PMID Ann Clin Transl Neurol |