397 results on '"Fowler, Douglas M."'
Search Results
2. Retinoic acid induces human gastruloids with posterior embryo-like structures
3. Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
4. High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
5. Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants
6. A mutational atlas for Parkin proteostasis
7. Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
8. A chemically controlled Cas9 switch enables temporal modulation of diverse effectors
9. Profiling of drug resistance in Src kinase at scale uncovers a regulatory network coupling autoinhibition and catalytic domain dynamics
10. Will variants of uncertain significance still exist in 2030?
11. An Atlas of Variant Effects to understand the genome at nucleotide resolution
12. CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs
13. Abstract 18022: Multiplexed Generation and Functional Annotation of Hypertrophic Cardiomyopathy-Associated MYH7 Missense Variants in Isogenic Gene-Edited Stem Cell-Derived Cardiomyocytes
14. Defining and Reducing Variant Classification Disparities
15. Multiplex, multimodal mapping of variant effects in secreted proteins
16. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
17. Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
18. Massively parallel characterization of CYP2C9 variant enzyme activity and abundance
19. Variant Interpretation: Functional Assays to the Rescue
20. Abstract 12145: Cell Surface Trafficking and Functional Deep Mutational Scans of the Potassium Channel Gene KCNE1
21. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
22. Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
23. Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes
24. A missense variant effect map for the human tumour suppressor protein CHK2
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. Biophysical and Mechanistic Models for Disease-Causing Protein Variants
28. A Combined Approach Reveals a Regulatory Mechanism Coupling Src’s Kinase Activity, Localization, and Phosphotransferase-Independent Functions
29. Antigen perception in T cells by long-term Erk and NFAT signaling dynamics
30. Will variants of uncertain significance still exist in 2030?
31. Optogenetic Microwell Array Screening System: A High-Throughput Engineering Platform for Genetically Encoded Fluorescent Indicators
32. Deep mutational scanning of CYP2C19 reveals a substrate specificity-abundance tradeoff
33. Deep mutational scanning reveals a tight correlation between protein degradation and toxicity of thousands of non-native aspartoacylase protein variants
34. Contributors
35. Temporal and rheostatic control of genome editing with a chemically-inducible Cas9
36. Classifying disease-associated variants using measures of protein activity and stability
37. Early emergence of negative regulation of the tyrosine kinase Src by the C-terminal Src kinase
38. High‐throughput, microscope‐based sorting to dissect cellular heterogeneity
39. Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs
40. Multiplex assessment of protein variant abundance by massively parallel sequencing
41. A mutational atlas for Parkin proteostasis
42. Molecular determinants of Hsp90 dependence of Src kinase revealed by deep mutational scanning
43. Machine vision reveals micronucleus rupture as a potential driver of the transcriptomic response to aneuploidy
44. High-throughput functional mapping of variants in an arrhythmia gene,KCNE1, reveals novel biology
45. Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
46. Keeping up with the genomes: scaling genomic variant interpretation
47. MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
48. Figure S1 from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
49. Table S3 from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
50. Data from A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
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