Skip to main content

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 1/13/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,361 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
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Bassani S. DOI
PMID

Genome Med.
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency Marina Villamor-Paya DOI
PMID

iScience
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency Marina Villamor-Paya PMID

iScience
The Genetic Landscape of Familial Pulmonary Fibrosis Qi Liu PMID

American Journal of Respiratory and Critical Care Medicine
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension Ian Copeland PMID

JCI Insight
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 Helmut Grasberger PMID

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

Am J Hum Genet
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Daniel Brooks PMID

Human Genetics
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Ana Topf PMID

Nature Genetics
Displaying 31 to 45 of 109 total records