|
| 36865205 | APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP. | medRxiv | 2023 |
| 37723522 | The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study. | Genome Med | 2023 |
| 37012465 | Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study. | J Community Genet | 2023 |
| 37261439 | Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al. | Genet Med | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 36865205 | APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP. | medRxiv | 2023 |
| 36688725 | Risk prediction models for endometrial cancer: development and validation in an international consortium. | J Natl Cancer Inst | 2023 |
| 36609150 | The splicing effect of variants at branchpoint elements in cancer genes. | Genet Med | 2023 |
| 36604177 | Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices. | J Med Genet | 2023 |
| 36988593 | <i>Helicobacter pylori</i>, Homologous-Recombination Genes, and Gastric Cancer. | N Engl J Med | 2023 |
| 36600593 | Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. | J Med Genet | 2023 |
| 37536919 | <i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resources. | J Med Genet | 2023 |
| 37536919 | <i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resources. | J Med Genet | 2023 |
| 37723522 | The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study. | Genome Med | 2023 |
| 36988593 | <i>Helicobacter pylori</i>, Homologous-Recombination Genes, and Gastric Cancer. | N Engl J Med | 2023 |
| 37012465 | Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study. | J Community Genet | 2023 |
| 37261439 | Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al. | Genet Med | 2023 |
| 36688725 | Risk prediction models for endometrial cancer: development and validation in an international consortium. | J Natl Cancer Inst | 2023 |
| 36609150 | The splicing effect of variants at branchpoint elements in cancer genes. | Genet Med | 2023 |
| 36604177 | Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices. | J Med Genet | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 36600593 | Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. | J Med Genet | 2023 |
| 34727336 | Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study. | J Community Genet | 2022 |
| 35451539 | Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. | Hum Mutat | 2022 |
| 35764678 | Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target. | Sci Rep | 2022 |
| 36095262 | Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions. | Hum Mutat | 2022 |
| 36273432 | SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. | Hum Mutat | 2022 |
| 35420638 | Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants. | JAMA Oncol | 2022 |
| 36332611 | Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. | Am J Hum Genet | 2022 |
| 36448424 | Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. | Hum Mutat | 2022 |
| 36612250 | Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). | Cancers (Basel) | 2022 |
| 35039532 | Value of the loss of heterozygosity to BRCA1 variant classification. | NPJ Breast Cancer | 2022 |
| 34906512 | Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. | Genet Med | 2022 |
| 34906479 | Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. | Genet Med | 2022 |
| 34906448 | The splicing effect of variants at branchpoint elements in cancer genes. | Genet Med | 2022 |
| 34727336 | Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study. | J Community Genet | 2022 |
| 35191126 | Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria. | Hum Mutat | 2022 |
| 35077220 | Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants. | J Clin Oncol | 2022 |
| 34697207 | Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotype. | J Med Genet | 2022 |
| 35263119 | TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members. | J Clin Oncol | 2022 |
| 35084436 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. | JAMA Oncol | 2022 |
| 35065883 | Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption. | Genet Med | 2022 |
| 35764678 | Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target. | Sci Rep | 2022 |
| 35420638 | Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants. | JAMA Oncol | 2022 |
| 35451539 | Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. | Hum Mutat | 2022 |
| 36448424 | Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. | Hum Mutat | 2022 |
| 36612250 | Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). | Cancers (Basel) | 2022 |
| 36273432 | SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. | Hum Mutat | 2022 |
| 36332611 | Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. | Am J Hum Genet | 2022 |
| 36095262 | Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions. | Hum Mutat | 2022 |