ZEYNEP COBAN-AKDEMIR to Mutation, Missense
This is a "connection" page, showing publications ZEYNEP COBAN-AKDEMIR has written about Mutation, Missense.
Connection Strength
1.009
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.
Score: 0.120
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056.
Score: 0.114
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.111
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Score: 0.109
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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 08; 14(8):e1007504.
Score: 0.105
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 02; 101(5):716-724.
Score: 0.099
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.090
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3.
Score: 0.083
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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9).
Score: 0.039
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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803.
Score: 0.037
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Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 03; 26(3):330-339.
Score: 0.025
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.025
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan; 97(1):49-59.
Score: 0.024
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.024