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 7/1/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 4,285 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
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes Michael Zech PMID

Ann Neurol 		Broad Institute
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO Tassos Grammatikopoulos PMID

Hepatology Communications 		University of Washington Center for Rare Disease Research
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Tadahiro Mitani PMID

American Journal of Human Genetics 		Baylor College of Medicine Research Center
From variant to function in human disease genetics Tuuli Lappalainen PMID

Science 		Broad Institute
Constellation illuminates rare disease genetics Cheng et al. DOI
 Baylor College of Medicine Research Center
Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases Georgia Pitsava DOI
 University of California, Irvine - GREGoR
Analysis of splicing coding and noncoding genes and pseudogenes reveals novel gene-disease relationships Olfa Messaoud DOI
 Broad Institute
Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs Elston D’Souza DOI
 Broad Institute
Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns Colby T Marvin DOI
 University of Washington Center for Rare Disease Research
An extensible laboratory information management system for data harmonization across research centers: The ICTS-Dashboard King, Charles Hadley DOI
 University of California, Irvine - GREGoR
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset Multi-site Ben Heavner and Marsha Wheeler DOI
 Baylor College of Medicine Research Center; Broad Institute; University of California, Irvine - GREGoR; GREGoR Stanford Site; University of Washington Center for Rare Disease Research; Data Coordinating Center
Calibration of variant effect predictors for in-frame indels for clinical variant classification Haneen Abderrazzaq DOI
 Broad Institute
Kauro, a graph-based chatbot for high-fidelity information transmission conversations King, Charles Hadley DOI
 University of California, Irvine - GREGoR
Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families Shaghayegh T. Beheshti DOI
 Baylor College of Medicine Research Center
Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles Jiaoyang Xu DOI
 Baylor College of Medicine Research Center
Displaying 136 to 150 of 166 total records