Yasemin Alanay

机构：Acıbadem University, Kent Hastanesi, Pediatrics and Genetics, Acıbadem Adana Hospital · ORCID：0000-0003-0683-9731

发表论文 223 篇 · 总被引 7539 次 · h-index 50

代表论文

• Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators (2023 · Frontiers in Public Health · 被引 18)
• Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects (2023 · Human Genetics and Genomics Advances · 被引 18)
• Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature (2023 · Genes · 被引 14)
• Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon (2024 · Nature Genetics · 被引 9)
• Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey (2024 · Frontiers in Pediatrics · 被引 8)
• Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center (2024 · Frontiers in Genetics · 被引 8)