ZEYNEP COBAN-AKDEMIR to Mutation
This is a "connection" page, showing publications ZEYNEP COBAN-AKDEMIR has written about Mutation.
Connection Strength
1.266
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.218
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.067
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Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome. Am J Hum Genet. 2021 02 04; 108(2):337-345.
Score: 0.065
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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.061
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.060
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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 01; 8(1):e1023.
Score: 0.060
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.058
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
Score: 0.055
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.054
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Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7.
Score: 0.053
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.051
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156.
Score: 0.051
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.050
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Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320.
Score: 0.049
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
Score: 0.048
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.048
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
Score: 0.047
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.021
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.018
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.018
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.017
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.015
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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract. 2020 03; 8(3):1103-1106.e3.
Score: 0.015
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
Score: 0.015
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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 11; 125(3):302-304.
Score: 0.014
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.013
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Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 04; 93(4):919-924.
Score: 0.013
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.012