CHRISTINE  ENG  to  Pedigree
                            
                            
                                This is a "connection" page, showing publications  CHRISTINE  ENG  has written about  Pedigree.
                            
                            
                            
                                
                                    
                                            
    
        
        
        
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            Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 11; 9(11):e1792.
            
            
                Score: 0.035
             
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            Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. J Neurogenet. 2021 Mar-Jun; 35(2):74-83.
            
            
                Score: 0.034
             
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            A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
            
            
                Score: 0.031
             
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            Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 03; 40(3):267-280.
            
            
                Score: 0.029
             
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            Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689.
            
            
                Score: 0.026
             
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            Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
            
            
                Score: 0.026
             
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            A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. Eur J Med Genet. 2017 Apr; 60(4):212-216.
            
            
                Score: 0.025
             
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            Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
            
            
                Score: 0.025
             
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            MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
            
            
                Score: 0.025
             
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            Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
            
            
                Score: 0.025
             
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            Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
            
            
                Score: 0.025
             
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            De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
            
            
                Score: 0.025
             
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            CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11.
            
            
                Score: 0.024
             
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            Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
            
            
                Score: 0.024
             
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            Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
            
            
                Score: 0.024
             
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            De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
            
            
                Score: 0.023
             
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            Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb; 121(2):e377-86.
            
            
                Score: 0.014