JAMES LUPSKI to Drosophila
This is a "connection" page, showing publications JAMES LUPSKI has written about Drosophila.
Connection Strength
0.301
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Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 2012 May; 42(5):1661-8.
Score: 0.062
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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 Jul; 26(7):101125.
Score: 0.038
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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: 0.035
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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: 0.034
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082.
Score: 0.031
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 04 12; 13(1):55.
Score: 0.031
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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 06 01; 27(11):1913-1926.
Score: 0.026
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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: 0.023
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CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet. 2015 Mar 15; 24(6):1574-83.
Score: 0.020