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Panagiotis Katsonis

Baylor College of Medicine
H指数:29
被引数:5,008

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
2025-03-010
OA
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
2025-02-200
PRE
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
2025-02-120
OAAI
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
2025-01-091
OAAI
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
2024-12-230
PRE
MYC Induces Oncogenic Stress through RNA Decay and Ribonucleotide Catabolism in Breast Cancer
2024-09-030
OAAI
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
2024-08-070
PRE
Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms
2024-06-181
OAAI
ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase
2024-06-011
OAAI
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
2024-04-293
OAAI
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX的变异与X连锁神经发育障碍相关,并伴有复发性面部格式塔

2024-03-014
OAAI
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

CAGI,基因组解释的关键评估,建立了计算遗传变异解释方法的进展和前景

2024-02-2210
OAAI
Predicting the impact of rare variants on RNA splicing in CAGI6
2024-01-033
OAAI
Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity
2023-09-1416
OA
Evolution of cisplatin resistance through coordinated metabolic reprogramming of the cellular reductive state
2023-04-037
OA