OLIVIER LICHTARGE to Mutation, Missense
This is a "connection" page, showing publications OLIVIER LICHTARGE has written about Mutation, Missense.
Connection Strength
1.812
-
Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects. Nat Commun. 2025 01 02; 16(1):159.
Score: 0.673
-
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: 0.399
-
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6. Hum Genet. 2025 Mar; 144(2-3):173-189.
Score: 0.164
-
Assessing predictions on fitness effects of missense variants in calmodulin. Hum Mutat. 2019 09; 40(9):1463-1473.
Score: 0.116
-
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: 0.116
-
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: 0.116
-
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Hum Genet. 2025 Mar; 144(2-3):295-308.
Score: 0.043
-
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: 0.042
-
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: 0.040
-
Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.026
-
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.026
-
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018 02; 107:161-171.
Score: 0.026
-
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun; 32(6):579-89.
Score: 0.016
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.008