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Please note the final planned GREGoR website downtime in April:

  • Friday, April 19  at 5 pm PT to Monday April 22 at 8 am PT (63 hours)

During this time the GREGoR website will be down and users will be unable to log into the DCC's AnVIL management web app to link their AnVIL accounts. Please contact the DCC at if you have questions or need help during the downtime.


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.

Click on column labels to sort the table accordingly.

Title First author Preprint Publication
Candidate Gene Recommendations Jessica Chong DOI
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh DOI
Impact of genome build on RNA-seq interpretation and diagnostics Rachel Ungar DOI
Exome CNV detection, analysis and curation across Broad cohorts Gabrielle Lemire DOI
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures Christopher M. Grochowski DOI
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency Marina Villamor-Paya DOI
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Monica H Wojcik DOI
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project Sarah Stenton DOI
Displaying 31 to 38 of 38 total records