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 Sort descending | First author | Preprint | Publication |
|---|---|---|---|
| Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency | Yoel Gofin | PMID Hum Mutat. |
|
| Detection of mosaic and population-level structural variants with Sniffles2 | PMID Nature Biotechnology |
||
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets | Ben Weisburd | DOI |
PMID Genetics in Medicine |
| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
|
| Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement | Christy W LaFlamme | DOI |
PMID Nature Communications |
| Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | Ana Topf | PMID Nature Genetics |
|
| Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | Caroline Nava | DOI |
|
| Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts | Elizabeth E. Blue | PMID Rare |
|
| 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 |
| Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study | Elizabeth E. Blue | PMID Birth Defects Research |
|
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension | Ian Copeland | PMID JCI Insight |
|
| Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to multisystemic disorder | Marie Morimoto | PMID Am J Hum Genet. |
|
| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders | Julie Jurgens | DOI |
PMID Genetics in Medicine |
| Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia | PMID American Journal of Hematology |
||
| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |