Skip to Main Content

Paper Details

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Genet Med
43
2016
C3ORF17, CACNA1H, CADPS, CDK9, CTU2, Dysmorphology syndromes, HYAL2, MBL2, NEK9, TTC28, ZNF668, autozygome, dysmorphology, dysmorphology syndromes, genes, patients
Author NameAffiliation
Martin KircherUniversity of Washington
Jay ShendureUniversity of Washington
Jay ShendureUniversity of Washington
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Fowzan S AlkurayaCollege of Medicine, Alfaisal University
  • 1 - 5

Datasets

Release 1.2