Maria Isabel Achatz

机构：Hospital Sírio-Libanês · ORCID：0000-0001-6894-1219

发表论文 275 篇 · 总被引 6559 次 · h-index 38

代表论文

• Update on Cancer Screening Recommendations for Individuals with Li–Fraumeni Syndrome (2025 · Clinical Cancer Research · 被引 44)
• Mondo: integrating disease terminology across communities (2025 · Genetics · 被引 25)
• Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome (2024 · iScience · 被引 25)
• Breast cancer germline multigene panel testing in mainstream oncology based on clinical–public health utility: ESMO Precision Oncology Working Group recommendations (2025 · Annals of Oncology · 被引 22)
• Update on Surveillance in Von Hippel–Lindau Disease (2025 · Clinical Cancer Research · 被引 11)
• Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism–Jaw Tumor Syndrome, and Carney Complex (2025 · Clinical Cancer Research · 被引 10)