L. Amendola

发表论文 107 篇 · 总被引 5650 次 · h-index 34

代表论文

• ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) (2023 · Genetics in Medicine · 被引 367)
• ACMG PRACTICE RESOURCE: Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2023 · Genetics in Medicine · 被引 62)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder. (2023 · American Journal of Human Genetics · 被引 34)
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. (2024 · American Journal of Human Genetics · 被引 16)
• Most people share genetic test results with relatives even if the findings are normal: family communication in a diverse population (2023 · Genetics in Medicine · 被引 12)
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023 · npj Genomic Medicine · 被引 11)