238 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. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
15. Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
16. Massively parallel characterization of CYP2C9 variant enzyme activity and abundance
17. Variant Interpretation: Functional Assays to the Rescue
18. Abstract 12145: Cell Surface Trafficking and Functional Deep Mutational Scans of the Potassium Channel Gene KCNE1
19. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
20. Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
21. Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers
22. Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling
23. Biophysical and Mechanistic Models for Disease-Causing Protein Variants
24. A Combined Approach Reveals a Regulatory Mechanism Coupling Src’s Kinase Activity, Localization, and Phosphotransferase-Independent Functions
25. Early emergence of negative regulation of the tyrosine kinase Src by the C-terminal Src kinase
26. High‐throughput, microscope‐based sorting to dissect cellular heterogeneity
27. Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs
28. Multiplex assessment of protein variant abundance by massively parallel sequencing
29. Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
30. Keeping up with the genomes: scaling genomic variant interpretation
31. MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
32. Antigen perception in T cells by long-term Erk and NFAT signaling dynamics.
33. Optogenetic Microwell Array Screening System: A High-Throughput Engineering Platform for Genetically Encoded Fluorescent Indicators.
34. Mutagenesis-based protein structure determination
35. Molecular determinants of Hsp90 dependence of Src kinase revealed by deep mutational scanning.
36. Contemporary, yeast-based approaches to understanding human genetic variation
37. Engineering A-kinase Anchoring Protein (AKAP)-selective Regulatory Subunits of Protein Kinase A (PKA) through Structure-based Phage Selection
38. Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
39. A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function
40. A framework for exhaustively mapping functional missense variants
41. Deep mutational scanning: assessing protein function on a massive scale
42. Measuring the activity of protein variants on a large scale using deep mutational scanning
43. N-terminal Domains Elicit Formation of Functional Pmel17 Amyloid Fibrils
44. Aggregating Knowledge about Prions and Amyloid
45. The dynamin middle domain is critical for tetramerization and higher‐order self‐assembly
46. Functional amyloid--from bacteria to humans
47. Semen-Derived Amyloid Fibrils Drastically Enhance HIV Infection
48. Structure of the Sec13/31 COPII coat cage
49. Enrich: software for analysis of protein function by enrichment and depletion of variants
50. Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays.
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