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
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data	Haowei Du, Zain Dardas, Angad Jolly		PMID 12/28/2023 Nucleic Acids Research	Baylor College of Medicine Research Center
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service	Ellie Seaby	DOI 02/01/2023	PMID 12/15/2023 Healthcare	Broad Institute
Inferring compound heterozygosity from large-scale exome sequencing data	Michael Guo, Laurent Francioli	DOI 03/23/2023	PMID 12/06/2023 Nature Genetics	Broad Institute
Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1	Patterson, Karynne		PMID 11/14/2023 American Journal of Ophthalmology	University of Washington Center for Rare Disease Research
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia	Ophélie Gourgas		PMID 11/03/2023 Nat Commun	Broad Institute
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking			PMID 11/01/2023 J Inherit Metab Dis	Baylor College of Medicine Research Center
Using a chat-based informed consent tool in large-scale genomic research	Sarah K Savage	DOI 01/24/2023	PMID 09/04/2023 Journal of the American Medical Informatics Association	University of California, Irvine - GREGoR
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data	Mehrtash Babadi		PMID 09/01/2023 Nat Genet	Broad Institute
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data	Moriel Singer-Berk	DOI 03/09/2023	PMID 08/25/2023 American Journal of Human Genetics	Broad Institute
RARB-related cerebral palsy			PMID 08/25/2023 Genet Med	Baylor College of Medicine Research Center
The complete sequence of a human Y chromosome	Arang Rhie		PMID 08/23/2023 Nature	Baylor College of Medicine Research Center
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease	Daniel Calame	DOI 03/05/2023	PMID 08/03/2023 American Journal of Human Genetics	Baylor College of Medicine Research Center
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions Multi-site	Monica Wojcik	DOI 01/18/2023	PMID 08/03/2023 American Journal of Human Genetics	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
Advancing Understanding of Inequities in Rare Disease Genomics	Jillian Serrano	DOI 03/29/2023	PMID 07/28/2023 Clinical Therapeutics	Broad Institute
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.	Jessica Chong	DOI 03/09/2023	PMID 07/13/2023 Human Genetics and Genomics Advances	University of Washington Center for Rare Disease Research

Search

Publications