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 |
|---|---|---|---|---|
| Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+) | Andy Rivera Munoz | PMID Eur J Hum Genet (ePub) |
Baylor College of Medicine Research Center | |
| ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration | Jordi Del-Pozo-Rodriguez | PMID Brain |
Broad Institute | |
| De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. | Mengqi Ma | DOI |
PMID eLife |
University of Washington Center for Rare Disease Research |
| Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation | Brandon T. Garcia | DOI |
PMID Genome Medicine |
Baylor College of Medicine Research Center |
| Search for a genetic cause of variably protease-sensitive prionopathy | Yuan Lian | DOI |
PMID PLOS Pathology |
Broad Institute |
| AP2M1 is a candidate gene for microcephaly and intellectual disability in 3q27.1 deletions | PMID American Journal of Medical Genetics Part A |
Broad Institute | ||
| Novel variants in VARS2 demonstrate the phenotypic variability of a rare mitochondriopathy that responds to valine supplementation | PMID Journal of Inherited Metabolic Disease |
University of Washington Center for Rare Disease Research | ||
| Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach | Archana Rai | DOI |
PMID American Journal of Human Genetics |
Baylor College of Medicine Research Center |
| Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti Multi-site | Monica H Wojcik | DOI |
PMID HGG Adv. |
Broad Institute; University of Washington Center for Rare Disease Research |
| Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder | María Del Rocío Pérez Baca | DOI |
PMID Am J Hum Genet |
Broad Institute |
| HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models | Clara Houdayer | PMID Annals of Neurology |
Broad Institute | |
| Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy | PMID Neuromuscul Disord |
Broad Institute | ||
| Analytical validation of germline small variant detection using long-read HiFi genome sequencing | Nathan Hammond | PMID Genome Research |
GREGoR Stanford Site | |
| Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice | Zaneta Matuszek | PMID Nature Genetics |
Broad Institute | |
| Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | Caroline Nava | DOI |
PMID Nature Genetics |
Broad Institute |