OGUZ KANCA to Humans
This is a "connection" page, showing publications OGUZ KANCA has written about Humans.
Connection Strength
0.227
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 04 03; 112(4):846-862.
Score: 0.024
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.016
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Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. Mol Neurodegener. 2026 Jan 30; 21(1).
Score: 0.006
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Drospondin, a glial glycoprotein with similarities to human Reelin/F-spondin, contributes to Drosophila brain development and function. Proc Natl Acad Sci U S A. 2026 Feb 03; 123(5):e2502307123.
Score: 0.006
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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Apr; 28(4):101685.
Score: 0.006
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.006
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Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila. Am J Hum Genet. 2025 12 04; 112(12):2870-2887.
Score: 0.006
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 01; 148(8):2658-2670.
Score: 0.006
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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders. Dis Model Mech. 2025 07 01; 18(7).
Score: 0.006
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999.
Score: 0.006
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Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. J Genet Genomics. 2025 10; 52(10):1189-1198.
Score: 0.006
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
Score: 0.006
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Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nat Neurosci. 2024 Oct; 27(10):1918-1933.
Score: 0.006
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 11; 26(11):101218.
Score: 0.006
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Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. Nat Commun. 2024 Apr 18; 15(1):3326.
Score: 0.006
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 07; 26(7):101125.
Score: 0.006
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
Score: 0.006
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Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024 03 26; 43(3):113861.
Score: 0.006
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Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proc Natl Acad Sci U S A. 2024 Feb 27; 121(9):e2322582121.
Score: 0.006
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 12 11; 12.
Score: 0.006
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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937.
Score: 0.005
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A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nat Metab. 2023 09; 5(9):1595-1614.
Score: 0.005
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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
Score: 0.005
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A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins. Cell Rep. 2023 08 29; 42(8):112842.
Score: 0.005
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
Score: 0.005
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
Score: 0.005
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Drosophila as a diet discovery tool for treating amino acid disorders. Trends Endocrinol Metab. 2023 02; 34(2):85-105.
Score: 0.005
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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931.
Score: 0.005
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Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Hum Mol Genet. 2022 08 23; 31(16):2751-2765.
Score: 0.005
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.
Score: 0.005
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517.
Score: 0.005
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
Score: 0.005
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
Score: 0.005
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
Score: 0.005
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.
Score: 0.004
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Fluorescent fusion protein knockout mediated by anti-GFP nanobody. Nat Struct Mol Biol. 2011 Dec 11; 19(1):117-21.
Score: 0.002
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Lipid microdomain clustering induces a redistribution of antigen recognition and adhesion molecules on human T lymphocytes. J Immunol. 2002 Mar 15; 168(6):2737-44.
Score: 0.001