Co-Authors
                            
                            
                                This is a "connection" page, showing publications co-authored by   MICHAEL WANGLER   and   CHRISTINE ENG.
                            
                            
                            
                                
                                    
                                            
    
        
        
        
            Connection Strength
            
                
            
            0.395
         
        
        
     
 
    
        
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            De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
            
            
                Score: 0.160
             
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            AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 2024 May; 1(5).
            
            
                Score: 0.056
             
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            A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
            
            
                Score: 0.041
             
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            Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
            
            
                Score: 0.038
             
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            Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
            
            
                Score: 0.036
             
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            Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
            
            
                Score: 0.034
             
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            De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
            
            
                Score: 0.028