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616 results on '"Spurdle A"'

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1. Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

2. Germline copy number variants and endometrial cancer risk

4. A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

5. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

6. A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

7. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

8. Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

9. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

10. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

15. A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

17. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

18. RNA variant assessment using transactivation and transdifferentiation

20. Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum

22. The impact of coding germline variants on contralateral breast cancer risk and survival

23. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

25. The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

27. The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

28. A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival

29. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

30. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

32. The association between genetically elevated polyunsaturated fatty acids and risk of cancer

33. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

34. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

35. Coffee consumption and risk of endometrial cancer: a pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium (E2C2)

36. Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels

37. The association between genetically elevated polyunsaturated fatty acids and risk of cancerResearch in context

38. Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

39. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

44. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

45. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

47. P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

48. P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

49. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

50. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

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