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 |
|---|---|---|---|
| Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease | Gabrielle Lemire | DOI |
PMID American Journal of Human Genetics |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
PMID Human Genomics |
| KMT2E-Related Neurodevelopmental Disorder | Lynn Pais | PMID GeneReviews |
|
| NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy | Zain Dardas | PMID Genome Med |
|
| Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome | Fuki Hisama | DOI |
PMID Geroscience |
| A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project | Eleanor G Seaby | PMID Genet Med |
|
| Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies | Daniel Brooks | PMID Human Genetics |
|
| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | María Del Rocío Pérez Baca | PMID Am J Hum Genet |
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| Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | Ana Topf | PMID Nature Genetics |
|
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | Jil Stegman | PMID NPJ Genom Med |
|
| 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk | PMID Genetics in Medicine Open |
||
| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |
|
| Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Morad Ansari, Kamli Faour | DOI |
PMID Human Genetics and Genomics Advances |
| Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort | Kerith-Rae Dias | PMID Genetics in Medicine |
|
| Will variants of uncertain significance still exist in 2030? | Douglas M Fowler | PMID Am J Hum Genet |