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 |
|---|---|---|---|
| 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 |
| Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL | Elizabeth Carbonell | PMID HGG Advances |
|
| K-mer analysis of long-read alignment pileups for structural variant genotyping | Adam C. English | DOI |
PMID Nature Communications |
| Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing | David R. Murdock | PMID NPJ Genom Med |
|
| Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria | Timothy Bergquist | DOI |
PMID Genetics in Medicine |
| Expanding the phenotype of DNA ligase 1 deficiency: First report of macrocytic sideroblastic anemia | PMID American Journal of Hematology |
||
| Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum | Iris Verbinnen | PMID Am J Hum Genet. |
|
| Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection | Shloka Negi | DOI |
PMID American Journal of Human Genetics |
| Sequence variants in HECTD1 result in a variable neurodevelopmental disorder | Gazelle Zerafati-Jahromi | PMID The American Journal of Human Genetics |
|
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets | Ben Weisburd | DOI |
PMID Genetics in Medicine |
| Using multiplexed functional data to reduce variant classification inequities in underrepresented populations | Moez Dawood | DOI |
PMID Genome Medicine |
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
PMID Genome Research |
|
| Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia | Scott Barish | PMID The American Journal of Human Genetics |
|
| Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA | Vijay Ganesh | DOI |
PMID New England Journal of Medicine |
| De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome | Miriam Bertrand | PMID Mol Syndromol. |