Co-Authors
                            
                            
                                This is a "connection" page, showing publications co-authored by   ALISON BERTUCH   and   DONNA MUZNY.
                            
                            
                            
                                
                                    
                                            
    
        
        
        
            Connection Strength
            
                
            
            0.281
         
        
        
     
 
    
        
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            Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
            
            
                Score: 0.113
             
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            Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
            
            
                Score: 0.039
             
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            Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
            
            
                Score: 0.037
             
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            Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
            
            
                Score: 0.033
             
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            Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
            
            
                Score: 0.029
             
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            Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90.
            
            
                Score: 0.029