MICHAEL WANGLER to Drosophila melanogaster
This is a "connection" page, showing publications MICHAEL WANGLER has written about Drosophila melanogaster.
Connection Strength
2.990
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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders. Dis Model Mech. 2025 Jul 01; 18(7).
Score: 0.634
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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4).
Score: 0.556
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Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. Dis Model Mech. 2017 02 01; 10(2):77-88.
Score: 0.354
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.332
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Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders. PLoS One. 2025; 20(6):e0324143.
Score: 0.158
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A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 2020 01 07; 10(1):69-77.
Score: 0.108
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The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Hum Mol Genet. 2019 11 21; 28(R2):R207-R214.
Score: 0.107
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150).
Score: 0.106
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Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell. 2018 04 23; 45(2):226-244.e8.
Score: 0.096
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214.
Score: 0.075
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Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster. PLoS One. 2014; 9(6):e100213.
Score: 0.074
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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife. 2025 Aug 27; 13.
Score: 0.040
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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: 0.039
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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369.
Score: 0.038
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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: 0.035
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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: 0.030
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206.
Score: 0.030
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.029
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.028
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
Score: 0.027
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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: 0.026
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
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: 0.023
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Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131.
Score: 0.022