Panagiotis Katsonis
Overview
Explore the profile of Panagiotis Katsonis including associated specialties, affiliations and a list of published articles.
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73
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1255
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Recent Articles
1.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
Hum Genet
. 2025 Mar;
PMID: 40055237
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this...
2.
Turina P, Petrosino M, Enriquez Sandoval C, Novak L, Pasquo A, Alexov E, et al.
Hum Genet
. 2025 Feb;
PMID: 39976676
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment...
3.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Hum Genet
. 2025 Feb;
PMID: 39934475
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
4.
Aspromonte M, Del Conte A, Zhu S, Tan W, Shen Y, Zhang Y, et al.
Hum Genet
. 2025 Jan;
PMID: 39786577
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context...
5.
Katsonis P, Lichtarge O
Nat Commun
. 2025 Jan;
16(1):159.
PMID: 39746940
Computational methods for estimating missense variant impact suffer from inconsistent performance across genes, which poses a major challenge for their reliable use in clinical practice. While ensemble scores leverage multiple...
6.
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Turina P, Dal Cortivo G, Enriquez Sandoval C, Alexov E, Ascher D, Babbi G, et al.
Hum Genet
. 2024 Dec;
PMID: 39714488
Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calmodulin (CaM). The Critical Assessment of Genome Interpretation (CAGI) data provider at University...
7.
Meena J, Wang J, Neill N, Keough D, Putluri N, Katsonis P, et al.
Cancer Discov
. 2024 Aug;
14(9):1699-1716.
PMID: 39193992
Upregulation of MYC is a hallmark of cancer, wherein MYC drives oncogenic gene expression and elevates total RNA synthesis across cancer cell transcriptomes. Although this transcriptional anabolism fuels cancer growth...
8.
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song Y, et al.
Hum Genet
. 2024 Aug;
PMID: 39110250
This paper presents an evaluation of predictions submitted for the "HMBS" challenge, a component of the sixth round of the Critical Assessment of Genome Interpretation held in 2021. The challenge...
9.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Res Sq
. 2024 Jul;
PMID: 39011112
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
10.
Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms
Kaur A, Rojek A, Symes E, Nawas M, Patel A, Patel J, et al.
Blood Cancer J
. 2024 Jun;
14(1):99.
PMID: 38890297
Current therapies for high-grade TP53-mutated myeloid neoplasms (≥10% blasts) do not offer a meaningful survival benefit except allogeneic stem cell transplantation in the minority who achieve a complete response to...