PANAGIOTIS KATSONIS to Phenotype
This is a "connection" page, showing publications PANAGIOTIS KATSONIS has written about Phenotype.
Connection Strength
0.661
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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: 0.217
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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: 0.076
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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: 0.064
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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: 0.043
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SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review. Clin Genet. 2026 Jan; 109(1):77-85.
Score: 0.029
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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs). Hum Genet. 2025 Mar; 144(2-3):227-242.
Score: 0.028
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics. 2024 04 29; 18(1):44.
Score: 0.026
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508.
Score: 0.026
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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: 0.023
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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: 0.022
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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: 0.019
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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: 0.019
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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