Stylianos E. Antonarakis

机构：University of Geneva, Academy of Athens, Swiss Finance Institute · ORCID：0000-0001-8907-5823

发表论文 924 篇 · 总被引 127843 次 · h-index 147

代表论文

• FOXI3 pathogenic variants cause one form of craniofacial microsomia (2023 · Nature Communications · 被引 34)
• Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder (2023 · Genetics in Medicine · 被引 20)
• The genetic cause of neurodevelopmental disorders in 30 consanguineous families (2024 · Frontiers in Medicine · 被引 9)
• FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries (2025 · Nature Communications · 被引 7)
• Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2024 · The American Journal of Human Genetics · 被引 7)
• New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2 (2024 · Clinical Genetics · 被引 7)