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 7/1/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 4,285 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 |
|---|---|---|---|---|
| Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | DOI |
PMID iScience |
Broad Institute |
| The Genetic Landscape of Familial Pulmonary Fibrosis | Qi Liu | PMID American Journal of Respiratory and Critical Care Medicine |
University of Washington Center for Rare Disease Research | |
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension | Ian Copeland | PMID JCI Insight |
Baylor College of Medicine Research Center | |
| STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 | Helmut Grasberger | PMID Nature Genetics |
University of Washington Center for Rare Disease Research | |
| 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 |
Broad Institute |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
PMID Human Genomics |
Broad Institute |
| KMT2E-Related Neurodevelopmental Disorder | Lynn Pais | PMID GeneReviews |
Broad Institute | |
| 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 |
Baylor College of Medicine Research Center | |
| Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome | Fuki Hisama | DOI |
PMID Geroscience |
University of Washington Center for Rare Disease Research |
| A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project | Eleanor G Seaby | PMID Genet Med |
Broad Institute | |
| Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies | Daniel Brooks | PMID Human Genetics |
Broad Institute | |
| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | María Del Rocío Pérez Baca | PMID Am J Hum Genet |
Broad Institute | |
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | Jil Stegman | PMID NPJ Genom Med |
Baylor College of Medicine Research Center | |
| Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | Ana Topf | PMID Nature Genetics |
Broad Institute | |
| 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk | PMID Genetics in Medicine Open |
University of Washington Center for Rare Disease Research |