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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 10/1/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 2,784 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 variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. Mengqi Ma DOI
PMID

eLife
Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation Brandon T. Garcia DOI
PMID

Genome Medicine
Search for a genetic cause of variably protease-sensitive prionopathy Yuan Lian DOI
PMID

PLOS Pathology
AP2M1 is a candidate gene for microcephaly and intellectual disability in 3q27.1 deletions PMID

American Journal of Medical Genetics Part A
Novel variants in VARS2 demonstrate the phenotypic variability of a rare mitochondriopathy that responds to valine supplementation PMID

Journal of Inherited Metabolic Disease
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti Monica H Wojcik DOI
PMID

HGG Adv.
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
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models Clara Houdayer PMID

Annals of Neurology
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy PMID

Neuromuscul Disord
Analytical validation of germline small variant detection using long-read HiFi genome sequencing Nathan Hammond PMID

Genome Research
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
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava DOI
PMID

Nature Genetics
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model Lein N H Dofash PMID

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

American Journal of Human Genetics
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
Displaying 1 to 15 of 138 total records