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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 1/13/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,361 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 |
|---|---|---|---|
| De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | PMID iScience |
|
| The Genetic Landscape of Familial Pulmonary Fibrosis | Qi Liu | PMID American Journal of Respiratory and Critical Care Medicine |
|
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension | Ian Copeland | PMID JCI Insight |
|
| 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 |
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| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | María Del Rocío Pérez Baca | PMID Am J Hum Genet |
|
| Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies | Daniel Brooks | PMID Human Genetics |
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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 |
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| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | Jil Stegman | PMID NPJ Genom Med |
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| 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 |