Periklis Makrythanasis

机构：University of Geneva, National and Kapodistrian University of Athens, Academy of Athens, Biomedical Research Foundation of the Academy of Athens, Children's Hospital Agia Sophia, Athens Medical Center, Athens State University · ORCID：0000-0002-3725-0113

发表论文 130 篇 · 总被引 3573 次 · h-index 33

代表论文

• Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancer (2024 · The Lancet Respiratory Medicine · 被引 11)
• The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements (2024 · Genes · 被引 9)
• Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children (2024 · Genes · 被引 6)
• ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis) (2026 · European Journal of Human Genetics · 被引 4)
• Regulation of nucleotide excision repair by wild-type HRAS signaling in head and neck cancer (2025 · Cancer Gene Therapy · 被引 4)
• SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations (2024 · International Journal of Molecular Sciences · 被引 4)