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 |
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| 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 |