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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 4/2/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,757 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
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
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Daniel Brooks PMID

Human Genetics
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability María Del Rocío Pérez Baca PMID

Am J Hum Genet
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Ana Topf PMID

Nature Genetics
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Jil Stegman PMID

NPJ Genom Med
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
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features Morad Ansari, Kamli Faour DOI
PMID

Human Genetics and Genomics Advances
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort Kerith-Rae Dias PMID

Genetics in Medicine
Will variants of uncertain significance still exist in 2030? Douglas M Fowler PMID

Am J Hum Genet
Displaying 46 to 60 of 124 total records