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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 4/2/2025 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
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh DOI
PMID

New England Journal of Medicine
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome Miriam Bertrand PMID

Mol Syndromol.
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
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
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.
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts Elizabeth E. Blue PMID

Rare
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. Javier A Muntadas PMID

Case Reports BCM Medical Genomics
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes Dmitrijs Rots PMID

Am J Hum Genet
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement Christy W LaFlamme DOI
PMID

Nature Communications
Displaying 16 to 30 of 124 total records