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Pharmacogenomics of CYP2C9: Functional and Clinical Considerations.
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- Journal of Personalized Medicine, 2018, v. 8, n. 1, p. 1, doi. 10.3390/jpm8010001
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- Article
A platform for functional assessment of large variant libraries in mammalian cells.
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- Nucleic Acids Research, 2017, v. 45, n. 11, p. 1, doi. 10.1093/nar/gkx183
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- Publication type:
- Article
Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27342-0
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- Article
Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00984-x
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- Article
Deep mutational scanning: a new style of protein science.
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- Nature Methods, 2014, v. 11, n. 8, p. 801, doi. 10.1038/nmeth.3027
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- Article
High-resolution mapping of protein sequence-function relationships.
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- Nature Methods, 2010, v. 7, n. 9, p. 741, doi. 10.1038/nmeth.1492
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- Article
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
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- Bioinformatics, 2024, v. 40, n. 4, p. 1, doi. 10.1093/bioinformatics/btae182
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- Article
MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
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- Bioinformatics, 2021, v. 37, n. 19, p. 3382, doi. 10.1093/bioinformatics/btab215
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- Article
A mutational atlas for Parkin proteostasis.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45829-4
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- Publication type:
- Article
The dynamin middle domain is critical for tetramerization and higher-order self-assembly.
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- EMBO Journal, 2007, v. 26, n. 2, p. 559, doi. 10.1038/sj.emboj.7601491
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- Article
Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance.
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- Molecular Biology & Evolution, 2021, v. 38, n. 8, p. 3235, doi. 10.1093/molbev/msab095
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- Article
Corrigendum: Structure of the Sec13/31 COPII coat cage.
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- 2006
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- Correction Notice
Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational Scanning.
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- G3: Genes | Genomes | Genetics, 2019, v. 9, n. 11, p. 3683, doi. 10.1534/g3.119.400535
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- Article
High‐throughput, microscope‐based sorting to dissect cellular heterogeneity.
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- Molecular Systems Biology, 2020, v. 16, n. 6, p. 1, doi. 10.15252/msb.20209442
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- Article
A framework for exhaustively mapping functional missense variants.
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- Molecular Systems Biology, 2017, v. 13, n. 12, p. 1, doi. 10.15252/msb.20177908
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- Article
An Atlas of Variant Effects to understand the genome at nucleotide resolution.
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- 2023
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- Publication type:
- Editorial
Applying Multiplex Assays to Understand Variation in Pharmacogenes.
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- Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 2, p. 290, doi. 10.1002/cpt.1468
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- Article
Structure of the Sec13/31 COPII coat cage.
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- Nature, 2006, v. 439, n. 7073, p. 234, doi. 10.1038/nature04339
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- Article
Functional Amyloidogenesis and Cytotoxicity—Insights into Biology and Pathology
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- PLoS Biology, 2012, v. 10, n. 12, p. 1, doi. 10.1371/journal.pbio.1001459
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- Article
Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis.
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- PLoS Biology, 2008, v. 6, n. 2, p. e26, doi. 10.1371/journal.pbio.0060026
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- Article
Functional Amyloid Formation within Mammalian Tissue.
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- PLoS Biology, 2006, v. 4, n. 1, p. e6, doi. 10.1371/journal.pbio.0040006
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- Article
Functional Amyloid Formation within Mammalian Tissue.
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- PLoS Biology, 2005, v. 3, n. 11, p. 1, doi. 10.1371/journal.pbio.0040006
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- Publication type:
- Article
Analysis of Large-Scale Mutagenesis Data To Assess the Impact of Single Amino Acid Substitutions.
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- Genetics, 2017, v. 207, n. 1, p. 53, doi. 10.1534/genetics.117.300064
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- Article
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
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- Genetics, 2015, v. 200, n. 2, p. 413, doi. 10.1534/genetics.115.175802
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- Publication type:
- Article
An improved platform for functional assessment of large protein libraries in mammalian cells.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 1, p. e1, doi. 10.1093/nar/gkz910
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- Publication type:
- Article
A statistical framework for analyzing deep mutational scanning data.
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- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1272-5
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- Publication type:
- Article
Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6‐Mediated Metabolic Activity.
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- CTS: Clinical & Translational Science, 2020, v. 13, n. 1, p. 147, doi. 10.1111/cts.12695
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- Article
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48481-0
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- Publication type:
- Article
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.
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- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1845-6
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- Article
Measuring the activity of protein variants on a large scale using deep mutational scanning.
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- Nature Protocols, 2014, v. 9, n. 9, p. 2267, doi. 10.1038/nprot.2014.153
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- Article
Corrigendum: Elevated levels of oxidized cholesterol metabolites in Lewy body disease brains accelerate α-synuclein fibrilization.
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- 2006
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- Publication type:
- Correction Notice
Elevated levels of oxidized cholesterol metabolites in Lewy body disease brains accelerate α-synuclein fibrilization.
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- Nature Chemical Biology, 2006, v. 2, n. 5, p. 249, doi. 10.1038/nchembio782
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- Article
Enrich: software for analysis of protein function by enrichment and depletion of variants.
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- Bioinformatics, 2011, v. 27, n. 24, p. 3430, doi. 10.1093/bioinformatics/btr577
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- Publication type:
- Article
Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16542-9
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- Article
Keeping up with the genomes: scaling genomic variant interpretation.
- Published in:
- 2019
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- Publication type:
- Editorial
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7
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- Publication type:
- Article
Molecular determinants of Hsp90 dependence of Src kinase revealed by deep mutational scanning.
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- Protein Science: A Publication of the Protein Society, 2023, v. 32, n. 7, p. 1, doi. 10.1002/pro.4656
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- Article