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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
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Haowei Du, Zain Dardas, Angad Jolly PMID

Nucleic Acids Research
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service Ellie Seaby DOI
PMID

Healthcare
Inferring compound heterozygosity from large-scale exome sequencing data Michael Guo, Laurent Francioli DOI
PMID

Nature Genetics
Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1 Patterson, Karynne PMID

American Journal of Ophthalmology
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia Ophélie Gourgas PMID

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

J Inherit Metab Dis
Using a chat-based informed consent tool in large-scale genomic research Sarah K Savage DOI
PMID

Journal of the American Medical Informatics Association
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data Mehrtash Babadi PMID

Nat Genet
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data Moriel Singer-Berk DOI
PMID

American Journal of Human Genetics
RARB-related cerebral palsy PMID

Genet Med
The complete sequence of a human Y chromosome Arang Rhie PMID

Nature
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Daniel Calame DOI
PMID

American Journal of Human Genetics
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions Monica Wojcik DOI
PMID

American Journal of Human Genetics
Advancing Understanding of Inequities in Rare Disease Genomics Jillian Serrano DOI
PMID

Clinical Therapeutics
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. Jessica Chong DOI
PMID

Human Genetics and Genomics Advances
Displaying 61 to 75 of 123 total records