709 results on '"Cowley, Mark J"'
Search Results
2. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
3. SpliceVarDB: A comprehensive database of experimentally validated human splicing variants
4. Genome sequencing reanalysis increases the diagnostic yield in dystonia
5. Unusual PDGFRB fusion reveals novel mechanism of kinase activation in Ph-like B-ALL
6. A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer
7. Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes
8. Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
9. Diagnostic classification of childhood cancer using multiscale transcriptomics
10. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
11. Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions
12. Glutamine addiction promotes glucose oxidation in triple-negative breast cancer
13. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
14. Unscrambling cancer genomes via integrated analysis of structural variation and copy number
15. The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice.
16. Next-Generation Sequencing and Emerging Technologies*.
17. Whole-genome sequencing facilitates patient-specific quantitative PCR-based minimal residual disease monitoring in acute lymphoblastic leukaemia, neuroblastoma and Ewing sarcoma
18. Precision-guided treatment in high-risk pediatric cancers
19. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
20. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
21. Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer
22. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
23. Beyond DNA sequencing: genetic kidney disorders related to altered splicing.
24. In vitro and in vivo drug screens of tumor cells identify novel therapies for high‐risk child cancer
25. Revealing hidden genetic diagnoses in the ocular anterior segment disorders
26. Molecular patterns in salivary duct carcinoma identify prognostic subgroups
27. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
28. HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer
29. CRUX, a platform for visualising, exploring and analysing cancer genome cohort data
30. Future-proofing genomic data and consent management: a comprehensive review of technology innovations
31. Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
32. Whole genomes redefine the mutational landscape of pancreatic cancer
33. EPG5 -Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
34. ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
35. Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor
36. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
37. Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma
38. Population data improves variant interpretation in autosomal dominant polycystic kidney disease
39. Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
40. Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
41. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
42. Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement
43. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
44. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
45. Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma
46. Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
47. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
48. Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon
49. Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
50. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
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