Cristina Fortuño

机构：QIMR Berghofer Medical Research Institute · ORCID：0000-0002-1970-9912

发表论文 53 篇 · 总被引 1063 次 · h-index 16

代表论文

• Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants (2020 · Human Mutation · 被引 171)
• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel (2024 · The American Journal of Human Genetics · 被引 100)
• Breast cancer risks associated with missense variants in breast cancer susceptibility genes (2022 · Genome Medicine · 被引 60)
• Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome (2018 · Human Mutation · 被引 48)
• Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants (2018 · Human Mutation · 被引 47)
• Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation (2022 · The American Journal of Human Genetics · 被引 35)