348 results on '"Fowler, Douglas M."'
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2. Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants
3. A mutational atlas for Parkin proteostasis
4. Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
5. A chemically controlled Cas9 switch enables temporal modulation of diverse effectors
6. An Atlas of Variant Effects to understand the genome at nucleotide resolution
7. Profiling of drug resistance in Src kinase at scale uncovers a regulatory network coupling autoinhibition and catalytic domain dynamics
8. Will variants of uncertain significance still exist in 2030?
9. Abstract 18022: Multiplexed Generation and Functional Annotation of Hypertrophic Cardiomyopathy-Associated MYH7 Missense Variants in Isogenic Gene-Edited Stem Cell-Derived Cardiomyocytes
10. CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs
11. Defining and Reducing Variant Classification Disparities
12. Multiplex, multimodal mapping of variant effects in secreted proteins
13. Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes
14. A missense variant effect map for the human tumour suppressor protein CHK2
15. Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
16. Abstract 12145: Cell Surface Trafficking and Functional Deep Mutational Scans of the Potassium Channel Gene KCNE1
17. Variant Interpretation: Functional Assays to the Rescue
18. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
19. Parallel Chemoselective Profiling for Mapping Protein Structure
20. Antigen perception in T cells by long-term Erk and NFAT signaling dynamics
21. Will variants of uncertain significance still exist in 2030?
22. Optogenetic Microwell Array Screening System: A High-Throughput Engineering Platform for Genetically Encoded Fluorescent Indicators
23. Deep mutational scanning of CYP2C19 reveals a substrate specificity-abundance tradeoff
24. Deep mutational scanning reveals a tight correlation between protein degradation and toxicity of thousands of non-native aspartoacylase protein variants
25. Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers
26. Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling
27. Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
28. Contributors
29. Temporal and rheostatic control of genome editing with a chemically-inducible Cas9
30. Classifying disease-associated variants using measures of protein activity and stability
31. Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
32. A mutational atlas for Parkin proteostasis
33. Molecular determinants of Hsp90 dependence of Src kinase revealed by deep mutational scanning
34. Machine vision reveals micronucleus rupture as a potential driver of the transcriptomic response to aneuploidy
35. High-throughput functional mapping of variants in an arrhythmia gene,KCNE1, reveals novel biology
36. Retinoic acid induces human gastruloids with posterior embryo-like structures
37. Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs
38. Keeping up with the genomes: scaling genomic variant interpretation
39. MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
40. Multiplex assessment of protein variant abundance by massively parallel sequencing
41. Figure S1 from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
42. Table S3 from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
43. Data from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
44. CRaTER enrichment for on-target gene-editing enables generation of variant libraries in hiPSCs
45. Comprehensive Characterization of Missense Variation in Coagulation Factor IX Reveals Features Necessary for Secretion and γ-Carboxylation
46. Mutagenesis-based protein structure determination
47. Opto-MASS: a high-throughput engineering platform for genetically encoded fluorescent sensors enabling all-optical in vivo detection of monoamines and opioids
48. A versatile, chemically-controlled DNA binding switch enables temporal modulation of Cas9-based effectors
49. Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
50. A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function
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