|
| 37277488 | Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. | Eur J Hum Genet | 2024 |
| 36287227 | Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance. | Blood Adv | 2023 |
| 37629203 | PON-Fold: Prediction of Substitutions Affecting Protein Folding Rate. | Int J Mol Sci | 2023 |
| 37795169 | VariBench, new variation benchmark categories and data sets. | Front Bioinform | 2023 |
| 37920730 | Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics. | Curr Genomics | 2023 |
| 36713076 | Systematic errors in annotations of truncations, loss-of-function and synonymous variants. | Front Genet | 2023 |
| 35294277 | Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties. | Proc Natl Acad Sci U S A | 2022 |
| 35782867 | PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms. | Front Mol Biosci | 2022 |
| 36142711 | ProTstab2 for Prediction of Protein Thermal Stabilities. | Int J Mol Sci | 2022 |
| 36140794 | Individual Genetic Heterogeneity. | Genes (Basel) | 2022 |
| 36011397 | When a Synonymous Variant Is Nonsynonymous. | Genes (Basel) | 2022 |
| 32951567 | Systematics for types and effects of RNA variations. | RNA Biol | 2021 |
| 33761362 | TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration. | Cell Rep | 2021 |
| 33784391 | Circulating plasma microRNAs in systemic sclerosis-associated pulmonary arterial hypertension. | Rheumatology (Oxford) | 2021 |
| 33526860 | BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib. | Leukemia | 2021 |
| 34377957 | Measuring and interpreting pervasive heterogeneity, poikilosis. | FASEB Bioadv | 2021 |
| 34547651 | Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). | Blood Cells Mol Dis | 2021 |
| 34349760 | Structure-Function Relationships of Covalent and Non-Covalent BTK Inhibitors. | Front Immunol | 2021 |
| 34127679 | Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology. | NPJ Genom Med | 2021 |
| 34360790 | PON-Sol2: Prediction of Effects of Variants on Protein Solubility. | Int J Mol Sci | 2021 |
| 33164889 | Functional effects of protein variants. | Biochimie | 2021 |
| 32160417 | Problems in variation interpretation guidelines and in their implementation in computational tools. | Mol Genet Genomic Med | 2020 |
| 35300195 | Solubility of proteins. | ADMET DMPK | 2020 |
| 32016318 | Variation benchmark datasets: update, criteria, quality and applications. | Database (Oxford) | 2020 |
| 32613004 | Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment-Case of COVID-19. | Front Med (Lausanne) | 2020 |
| 32161811 | Guidelines for systematic reporting of sequence alignments. | Biol Methods Protoc | 2020 |
| 30742610 | How good are pathogenicity predictors in detecting benign variants? | PLoS Comput Biol | 2019 |
| 31684883 | ProTstab - predictor for cellular protein stability. | BMC Genomics | 2019 |
| 31301157 | Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants. | Hum Mutat | 2019 |
| 31270389 | FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes. | Sci Rep | 2019 |
| 31347738 | Checklist for gene/disease-specific variation database curators to enable ethical data management. | Hum Mutat | 2019 |
| 31307390 | Benchmarking subcellular localization and variant tolerance predictors on membrane proteins. | BMC Genomics | 2019 |
| 29294068 | Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering. | Nucleic Acids Res | 2018 |
| 30143704 | Pan-cancer analysis of neoepitopes. | Sci Rep | 2018 |
| 30116248 | Simulation of the Dynamics of Primary Immunodeficiencies in B Cells. | Front Immunol | 2018 |
| 30497376 | Representativeness of variation benchmark datasets. | BMC Bioinformatics | 2018 |
| 30591019 | Systematics for types and effects of DNA variations. | BMC Genomics | 2018 |
| 29688368 | NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database. | Database (Oxford) | 2018 |
| 29597263 | PON-tstab: Protein Variant Stability Predictor. Importance of Training Data Quality. | Int J Mol Sci | 2018 |
| 27282255 | Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant. | Leukemia | 2017 |
| 28440912 | Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. | Hum Mutat | 2017 |
| 28224672 | PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned. | Hum Mutat | 2017 |
| 28448599 | Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells. | PLoS One | 2017 |
| 28444810 | Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases. | Hum Mutat | 2017 |
| 28178384 | One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins. | Hum Mutat | 2017 |
| 29024182 | Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases. | Hum Mutat | 2017 |
| 29187139 | PON-SC - program for identifying steric clashes caused by amino acid substitutions. | BMC Bioinformatics | 2017 |
| 28634997 | Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. | Hum Mutat | 2017 |
| 27924022 | Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. | Nucleic Acids Res | 2017 |
| 27862583 | How to Define Pathogenicity, Health, and Disease? | Hum Mutat | 2017 |