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1. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

3. DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

4. A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

5. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

6. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

9. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.

10. Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

11. Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study

12. Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.

13. Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals

14. TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members

15. Preparing the workforce for genomic medicine: International challenges and strategies

17. Mendelian randomisation study of smoking exposure in relation to breast cancer risk

18. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

19. Mendelian randomisation study of smoking exposure in relation to breast cancer risk.

20. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.

21. Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

22. Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

23. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

24. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

25. Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

26. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia

29. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

30. The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.

31. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

32. Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

33. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.

34. Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.

35. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

36. Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers (npj Breast Cancer, (2019), 5, 1, (23), 10.1038/s41523-019-0115-9)

37. HIGHLIGHTS ACROSS MYOLOGY

38. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

39. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred to cytogenetic analysis and impact on clinical practice

40. Homologous recombination DNA repair defects in PALB2-associated breast cancers

41. Homologous recombination DNA repair defects in PALB2-associated breast cancers

42. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

43. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

44. Homologous recombination DNA repair defects in PALB2-associated breast cancers.

45. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

46. Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers (npj Breast Cancer, (2019), 5, 1, (23), 10.1038/s41523-019-0115-9).

47. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

48. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

49. Homologous recombination DNA repair defects in PALB2-associated breast cancers (vol 5, 23, 2019)

50. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

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