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
K-mer analysis of long-read alignment pileups for structural variant genotyping Adam C. English DOI
 PMID

Nature Communications 		Baylor College of Medicine Research Center
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing David R. Murdock PMID

NPJ Genom Med 		University of Washington Center for Rare Disease Research
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria Timothy Bergquist DOI
 PMID

Genetics in Medicine 		Broad Institute
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing Xiao Chen PMID

Nature Communications 		University of California, Irvine - GREGoR
Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia PMID

American Journal of Hematology 		Broad Institute
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum Iris Verbinnen PMID

Am J Hum Genet. 		University of Washington Center for Rare Disease Research
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection Multi-site Shloka Negi DOI
 PMID

American Journal of Human Genetics 		Broad Institute; University of California, Irvine - GREGoR
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder Gazelle Zerafati-Jahromi PMID

The American Journal of Human Genetics 		University of California, Irvine - GREGoR
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets Ben Weisburd DOI
 PMID

Genetics in Medicine 		Broad Institute
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations Moez Dawood DOI
 PMID

Genome Medicine 		Baylor College of Medicine Research Center
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
Displaying 31 to 45 of 156 total records