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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.

Click on column labels to sort the table accordingly.

Title First author Preprint Publication
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets Ben Weisburd DOI
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh DOI
The impact of the Turkish population variome on the genomic architecture of rare disease traits Zeynep Coban-Akdemir DOI
Displaying 76 to 78 of 78 total records