OLIVIER LICHTARGE to Phenotype
This is a "connection" page, showing publications OLIVIER LICHTARGE has written about Phenotype.
Connection Strength
1.170
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Harnessing the paradoxical phenotypes of APOE ?2 and APOE ?4 to identify genetic modifiers in Alzheimer's disease. Alzheimers Dement. 2021 05; 17(5):831-846.
Score: 0.341
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A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness. Genome Res. 2014 Dec; 24(12):2050-8.
Score: 0.222
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A general calculus of fitness landscapes finds genes under selection in cancers. Genome Res. 2022 05; 32(5):916-929.
Score: 0.093
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A method to delineate de novo missense variants across pathways prioritizes genes linked to autism. Sci Transl Med. 2021 05 19; 13(594).
Score: 0.088
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Graph-based information diffusion method for prioritizing functionally related genes in protein-protein interaction networks. Pac Symp Biocomput. 2020; 25:439-450.
Score: 0.080
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CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. Hum Mutat. 2019 09; 40(9):1436-1454.
Score: 0.078
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Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling. Hum Mutat. 2017 05; 38(5):569-580.
Score: 0.066
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Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul; 155A(7):1597-604.
Score: 0.044
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 Mar 07; 111(3):487-508.
Score: 0.027
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Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants. Hum Mutat. 2019 09; 40(9):1530-1545.
Score: 0.020
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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 09; 40(9):1373-1391.
Score: 0.020
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Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5. Hum Mutat. 2019 09; 40(9):1474-1485.
Score: 0.019
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Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 09; 40(9):1330-1345.
Score: 0.019
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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018 02; 107:161-171.
Score: 0.017
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Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence. Mol Cancer Ther. 2015 Feb; 14(2):608-19.
Score: 0.014
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The maternal-to-zygotic transition targets actin to promote robustness during morphogenesis. PLoS Genet. 2013 Nov; 9(11):e1003901.
Score: 0.013
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.005
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Receptor and betagamma binding sites in the alpha subunit of the retinal G protein transducin. Science. 1997 Jan 17; 275(5298):381-4.
Score: 0.004