PANAGIOTIS KATSONIS to Humans
This is a "connection" page, showing publications PANAGIOTIS KATSONIS has written about Humans.
Connection Strength
0.353
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Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects. Nat Commun. 2025 01 02; 16(1):159.
Score: 0.024
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Genome interpretation using in silico predictors of variant impact. Hum Genet. 2022 Oct; 141(10):1549-1577.
Score: 0.020
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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: 0.017
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Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests. Hum Mutat. 2017 09; 38(9):1072-1084.
Score: 0.014
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REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING. Pac Symp Biocomput. 2016; 21:207-18.
Score: 0.013
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Single nucleotide variations: biological impact and theoretical interpretation. Protein Sci. 2014 Dec; 23(12):1650-66.
Score: 0.012
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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: 0.012
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SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review. Clin Genet. 2026 Jan; 109(1):77-85.
Score: 0.006
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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Hum Genet. 2025 Mar; 144(2-3):295-308.
Score: 0.006
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Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges. Hum Genet. 2025 Mar; 144(2-3):265-280.
Score: 0.006
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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Hum Genet. 2025 Mar; 144(2-3):127-142.
Score: 0.006
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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: 0.006
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Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges. Hum Genet. 2025 Mar; 144(2-3):113-125.
Score: 0.006
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MYC Induces Oncogenic Stress through RNA Decay and Ribonucleotide Catabolism in Breast Cancer. Cancer Discov. 2024 Sep 04; 14(9):1699-1716.
Score: 0.006
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Assessing predictions on fitness effects of missense variants in HMBS in CAGI6. Hum Genet. 2025 Mar; 144(2-3):173-189.
Score: 0.006
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Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms. Blood Cancer J. 2024 06 18; 14(1):99.
Score: 0.006
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ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase. J Biol Chem. 2024 06; 300(6):107368.
Score: 0.006
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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: 0.006
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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: 0.006
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Predicting the impact of rare variants on RNA splicing in CAGI6. Hum Genet. 2025 Mar; 144(2-3):243-251.
Score: 0.006
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Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity. Nat Metab. 2023 10; 5(10):1673-1684.
Score: 0.006
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Functional variants identify sex-specific genes and pathways in Alzheimer's Disease. Nat Commun. 2023 05 13; 14(1):2765.
Score: 0.005
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Evolution of cisplatin resistance through coordinated metabolic reprogramming of the cellular reductive state. Br J Cancer. 2023 06; 128(11):2013-2024.
Score: 0.005
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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: 0.005
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Identification of evolutionarily stable functional and immunogenic sites across the SARS-CoV-2 proteome and greater coronavirus family. Bioinformatics. 2021 11 18; 37(22):4033-4040.
Score: 0.005
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An efficient chemical screening method for structure-based inhibitors to nucleic acid enzymes targeting the DNA repair-replication interface and SARS CoV-2. Methods Enzymol. 2021; 661:407-431.
Score: 0.005
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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: 0.005
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 08; 23(8):1465-1473.
Score: 0.005
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Evolutionary action score identifies a subset of TP53 mutated myelodysplastic syndrome with favorable prognosis. Blood Cancer J. 2021 03 06; 11(3):52.
Score: 0.005
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Targeting SARS-CoV-2 Nsp3 macrodomain structure with insights from human poly(ADP-ribose) glycohydrolase (PARG) structures with inhibitors. Prog Biophys Mol Biol. 2021 08; 163:171-186.
Score: 0.005
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Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease. Prog Biophys Mol Biol. 2021 08; 163:87-108.
Score: 0.005
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Assessing predictions on fitness effects of missense variants in calmodulin. Hum Mutat. 2019 09; 40(9):1463-1473.
Score: 0.004
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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: 0.004
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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: 0.004
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Assessment of predicted enzymatic activity of a-N-acetylglucosaminidase variants of unknown significance for CAGI 2016. Hum Mutat. 2019 09; 40(9):1519-1529.
Score: 0.004
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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Hum Mutat. 2019 09; 40(9):1546-1556.
Score: 0.004
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Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Hum Mutat. 2019 09; 40(9):1612-1622.
Score: 0.004
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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: 0.004
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Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge. Hum Mutat. 2019 09; 40(9):1392-1399.
Score: 0.004
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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: 0.004
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Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Hum Mutat. 2019 09; 40(9):1495-1506.
Score: 0.004
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Deleterious Effect of RAS and Evolutionary High-risk TP53 Double Mutation in Colorectal Liver Metastases. Ann Surg. 2019 05; 269(5):917-923.
Score: 0.004
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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab. 2018 11; 125(3):281-291.
Score: 0.004
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Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling. Am J Physiol Heart Circ Physiol. 2018 07 01; 315(1):H109-H121.
Score: 0.004
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Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer. Nat Med. 2018 05; 24(4):505-511.
Score: 0.004
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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: 0.004
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Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 09; 38(9):1042-1050.
Score: 0.004
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Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4. Hum Mutat. 2017 09; 38(9):1123-1131.
Score: 0.004
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Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction. PLoS One. 2017; 12(3):e0174766.
Score: 0.004
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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: 0.004
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Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. Blood. 2016 12 29; 128(26):3061-3072.
Score: 0.003
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Cdkn2a suppresses metastasis in squamous cell carcinomas induced by the gain-of-function mutant p53(R172H). J Pathol. 2016 10; 240(2):224-34.
Score: 0.003
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Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival. Neoplasia. 2015 Oct; 17(10):789-803.
Score: 0.003
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Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients. Cancer Res. 2015 Apr 01; 75(7):1205-15.
Score: 0.003
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Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer. Cancer Res. 2015 Apr 01; 75(7):1527-36.
Score: 0.003
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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: 0.003
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Prediction and redesign of protein-protein interactions. Prog Biophys Mol Biol. 2014 Nov-Dec; 116(2-3):194-202.
Score: 0.003
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Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP). J Mol Biol. 2013 Sep 23; 425(18):3277-88.
Score: 0.003
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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: 0.002
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun; 32(6):579-89.
Score: 0.002
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Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug; 66(8):1028-32.
Score: 0.002