Co-Authors
This is a "connection" page, showing publications co-authored by HUGO BELLEN and OGUZ KANCA.
Connection Strength
8.104
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An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination. Elife. 2022 06 20; 11.
Score: 0.743
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An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. Elife. 2019 11 01; 8.
Score: 0.619
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La CaSSA da Drosophila: A Versatile Expansion of the Tool Box. Neuron. 2019 10 23; 104(2):177-179.
Score: 0.618
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Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. Mol Neurodegener. 2026 01 30; 21(1).
Score: 0.239
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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 04; 28(4):101685.
Score: 0.238
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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: 0.225
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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: 0.216
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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: 0.210
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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: 0.210
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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: 0.209
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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: 0.206
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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: 0.204
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.
Score: 0.203
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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: 0.202
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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: 0.201
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Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. Cell Metab. 2023 05 02; 35(5):855-874.e5.
Score: 0.197
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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: 0.197
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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092.
Score: 0.191
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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: 0.189
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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: 0.188
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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: 0.185
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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613.
Score: 0.181
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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: 0.161
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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 Sep 05; 105(3):672-674.
Score: 0.153
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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: 0.152
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An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila. Elife. 2018 08 09; 7.
Score: 0.142
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A gene-specific T2A-GAL4 library for Drosophila. Elife. 2018 03 22; 7.
Score: 0.138
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Gene Tagging Strategies To Assess Protein Expression, Localization, and Function in Drosophila. Genetics. 2017 10; 207(2):389-412.
Score: 0.134
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A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies. Am J Hum Genet. 2026 Oct 01; 113(10):2178-2194.
Score: 0.062
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Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder. Res Sq. 2026 Jul 23.
Score: 0.062
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Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling. Genet Med. 2026 Sep; 28(9):102648.
Score: 0.062
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Rab4 spatially and functionally converges with Rab7 in the degradative endolysosomal network. Mol Biol Cell. 2026 Mar 01; 37(3):ar18.
Score: 0.060
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.059
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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: 0.059
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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: 0.058
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Revealing the nervous system requirements of Alzheimer's disease risk genes in Drosophila. bioRxiv. 2025 Jul 30.
Score: 0.058
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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: 0.057
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 07; 27(7):101429.
Score: 0.056
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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. 2025 Mar 01.
Score: 0.056
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A conserved role for ALG10/ALG10B and the N -glycosylation pathway in the sleep-epilepsy axis. medRxiv. 2024 Dec 13.
Score: 0.055
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Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. medRxiv. 2024 Sep 28.
Score: 0.054
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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: 0.054
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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: 0.053
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Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024 03 26; 43(3):113861.
Score: 0.052
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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: 0.050
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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: 0.049
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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: 0.048
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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 09 29; 31(19):3231-3244.
Score: 0.047
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Systematic expression profiling of Dpr and DIP genes reveals cell surface codes in Drosophila larval motor and sensory neurons. Development. 2022 05 15; 149(10).
Score: 0.046
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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: 0.044
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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: 0.043
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Use of the CRISPR-Cas9 System in Drosophila Cultured Cells to Introduce Fluorescent Tags into Endogenous Genes. Curr Protoc Mol Biol. 2020 Mar; 130(1):e112.
Score: 0.040
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456.
Score: 0.036
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IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260.
Score: 0.035