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 4/6/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 3,760 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
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
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model Lein N H Dofash PMID

Brain 		Broad Institute
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation Zain Dardas PMID

American Journal of Human Genetics 		Baylor College of Medicine Research Center
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases Sarah Stenton DOI
 PMID

HGG Advances 		Broad Institute
Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL Elizabeth Carbonell PMID

HGG Advances 		Broad Institute
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships Multi-site Eleanor C Broeren PMID

Genetics in Medicine Open 		Broad Institute; University of Washington Center for Rare Disease Research
Displaying 16 to 30 of 156 total records