561 results on '"Oshlack, Alicia"'
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2. Unusual PDGFRB fusion reveals novel mechanism of kinase activation in Ph-like B-ALL
3. Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia
4. Damsel: analysis and visualisation of DamID sequencing in R.
5. SFPQ-ABL1 and BCR-ABL1 use different signaling networks to drive B-cell acute lymphoblastic leukemia
6. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
7. Large-scale manipulation of promoter DNA methylation reveals context-specific transcriptional responses and stability
8. JAFFAL: detecting fusion genes with long-read transcriptome sequencing
9. Analysis of Tandem Repeats in Short‐Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel Expansions.
10. MLL-TFE3: a novel and aggressive KMT2A fusion identified in infant leukemia
11. The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia
12. A cross-tissue, age-specific flow cytometry reference for immune cells in the airways and blood of children
13. Gene set enrichment analysis for genome-wide DNA methylation data
14. MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq data
15. splatPop: simulating population scale single-cell RNA sequencing data
16. Direct reprogramming to human nephron progenitor-like cells using inducible piggyBac transposon expression of SNAI2-EYA1-SIX1
17. TALLSorts: a T-cell acute lymphoblastic leukemia subtype classifier using RNA-seq expression data
18. RNA-Seq of amniotic fluid cell-free RNA: a discovery phase study of the pathophysiology of congenital cytomegalovirus infection
19. Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
20. Haploinsufficiency for the Six2 gene increases nephron progenitor proliferation promoting branching and nephron number
21. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
22. Black Hole Mass Estimates of Radio Selected Quasars
23. Near-infrared micro-variability of radio-loud quasars
24. A Very Radio-Loud Narrow-Line Seyfert 1: PKS 2004-447
25. Benchmarking single-cell hashtag oligo demultiplexing methods
26. Catchii: Empowering literature review screening in healthcare
27. Transcriptional profiles for distinct aggregation states of mutant Huntingtin exon 1 protein unmask new Huntington's disease pathways
28. Sierra: discovery of differential transcript usage from polyA-captured single-cell RNA-seq data
29. Evaluation of variability in human kidney organoids
30. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
31. Single-cell analysis reveals congruence between kidney organoids and human fetal kidney
32. Bazam: a rapid method for read extraction and realignment of high-throughput sequencing data
33. Catchii: Empowering literature review screening in healthcare.
34. TALLSorts: a T-cell acute lymphoblastic leukaemia subtype classifier using RNA-seq expression data
35. Jarid2 regulates hematopoietic stem cell function by acting with polycomb repressive complex 2
36. Differential Expression for RNA Sequencing (RNA-Seq) Data: Mapping, Summarization, Statistical Analysis, and Experimental Design
37. Toblerone: detecting exon deletion events in cancer using RNA-seq
38. 3135 – DECIPHERING THE CELL-INTRINSIC MECHANISMS CONTROLLING CELL FATE AND OUTPUT OF HEMATOPOIETIC STEM AND PROGENITOR CELLS AT SINGLE CLONE RESOLUTION.
39. 2024 – UNDERSTANDING HOW THE TISSUE MICROENVIRONMENT DIRECTS CELL FATE IN HAEMATOPOIETIC STEM AND PROGENITOR CELLS
40. Benchmarking single-cell hashtag oligo demultiplexing methods
41. The polycomb repressive complex 2 governs life and death of peripheral T cells
42. 3D organoid-derived human glomeruli for personalised podocyte disease modelling and drug screening
43. STRetch: detecting and discovering pathogenic short tandem repeat expansions
44. Toblerone: detecting exon deletion events in cancer using RNA-seq
45. Defining the Fetal Gene Program at Single-Cell Resolution in Pediatric Dilated Cardiomyopathy
46. Genome-wide DNA methylation analysis identifies hypomethylated genes regulated by FOXP3 in human regulatory T cells
47. ALLSorts: an RNA-Seq subtype classifier for B-cell acute lymphoblastic leukemia
48. propeller: testing for differences in cell type proportions in single cell data
49. Single-cell atlas of bronchoalveolar lavage from preschool cystic fibrosis reveals new cell phenotypes
50. Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing
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