npj Genomic Medicine
ISSN: 2056-7944
Publisher: Nature Publishing Group
  
Publications (5)
  
    
        
    
        
    
    
    
        
            
                
  
  Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease (2024)
  Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ, Webb PM, Fasching P, et al.
  Journal article
            
                
  
  Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies (2024)
  Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, et al.
  Journal article
            
                
  
  Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept (2022)
  Lee M, Kwong AKY, Chui MMC, Chau JFT, Mak CCY, Au SLK, Lo HM, et al.
  Journal article
            
                
  
  Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders (2022)
  Boonsawat P, Horn AHC, Steindl K, Baumer A, Joset P, Kraemer D, Bahr A, et al.
  Journal article
            
                
  
  Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis. (2022)
  Kerick M, Acosta-Herrera M, Pilar Simeon-Aznar C, Luis Callejas J, Assassi S, Proudman SM, Nikpour M, et al.
  Journal article