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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 7/8/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 2,398 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 Sort descending Preprint Publication
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation DOI
PMID

Genome Research
Impact and characterization of serial structural variations across humans and great apes PMID

Nature Communications
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
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation PMID

Ann Clin Transl Neurol
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models PMID

Am J Hum Genet
Transcriptome-wide outlier detection approach diagnosed four individuals with RNU4atac-opathies and uncovered a putative novel disease-gene relationship DOI
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities DOI
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk PMID

Genetics in Medicine Open
Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia PMID

American Journal of Hematology
Detection of mosaic and population-level structural variants with Sniffles2 PMID

Nature Biotechnology
De novo variant identification from duo long-read sequencing DOI
Accelerating the Genomics for Rare Diseases DOI
RARB-related cerebral palsy PMID

Genet Med
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy PMID

Neuromuscul Disord
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking PMID

J Inherit Metab Dis
Displaying 1 to 15 of 126 total records