PANAGIOTIS KATSONIS to Genetic Predisposition to Disease
This is a "connection" page, showing publications PANAGIOTIS KATSONIS has written about Genetic Predisposition to Disease.
Connection Strength
0.424
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Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program. Am J Hum Genet. 2026 May 07; 113(5):1049-1066.
Score: 0.108
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SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review. Clin Genet. 2026 01; 109(1):77-85.
Score: 0.103
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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: 0.068
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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: 0.025
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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: 0.019
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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: 0.017
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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: 0.017
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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: 0.017
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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: 0.017
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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: 0.017
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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: 0.015