Connection

OGUZ KANCA to Humans

This is a "connection" page, showing publications OGUZ KANCA has written about Humans.
Connection Strength

0.186
  1. De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862.
    View in: PubMed
    Score: 0.026
  2. 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.
    View in: PubMed
    Score: 0.018
  3. 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.
    View in: PubMed
    Score: 0.007
  4. Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nat Neurosci. 2024 Oct; 27(10):1918-1933.
    View in: PubMed
    Score: 0.006
  5. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
    View in: PubMed
    Score: 0.006
  6. Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. Nat Commun. 2024 Apr 18; 15(1):3326.
    View in: PubMed
    Score: 0.006
  7. 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 Jul; 26(7):101125.
    View in: PubMed
    Score: 0.006
  8. 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.
    View in: PubMed
    Score: 0.006
  9. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024 03 26; 43(3):113861.
    View in: PubMed
    Score: 0.006
  10. 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.
    View in: PubMed
    Score: 0.006
  11. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
    View in: PubMed
    Score: 0.006
  12. 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.
    View in: PubMed
    Score: 0.006
  13. A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nat Metab. 2023 09; 5(9):1595-1614.
    View in: PubMed
    Score: 0.006
  14. Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet. 2024 Jan; 25(1):46-60.
    View in: PubMed
    Score: 0.006
  15. 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.
    View in: PubMed
    Score: 0.006
  16. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 05 04; 110(5):774-789.
    View in: PubMed
    Score: 0.006
  17. 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.
    View in: PubMed
    Score: 0.006
  18. Drosophila as a diet discovery tool for treating amino acid disorders. Trends Endocrinol Metab. 2023 02; 34(2):85-105.
    View in: PubMed
    Score: 0.006
  19. 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.
    View in: PubMed
    Score: 0.005
  20. 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.
    View in: PubMed
    Score: 0.005
  21. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.
    View in: PubMed
    Score: 0.005
  22. 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.
    View in: PubMed
    Score: 0.005
  23. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
    View in: PubMed
    Score: 0.005
  24. 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.
    View in: PubMed
    Score: 0.005
  25. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
    View in: PubMed
    Score: 0.005
  26. 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.
    View in: PubMed
    Score: 0.005
  27. Fluorescent fusion protein knockout mediated by anti-GFP nanobody. Nat Struct Mol Biol. 2011 Dec 11; 19(1):117-21.
    View in: PubMed
    Score: 0.003
  28. 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.
    View in: PubMed
    Score: 0.001
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.