Cuiping Hou

机构：Children's Hospital of Philadelphia

发表论文 102 篇 · 总被引 11337 次 · h-index 42

代表论文

• Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations (2020 · Nature Communications · 被引 87)
• Genomic profiling informs diagnoses and treatment in vascular anomalies (2023 · Nature Medicine · 被引 65)
• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 46)
• Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition (2023 · JCI Insight · 被引 38)
• A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 (2021 · American Journal of Medical Genetics Part A · 被引 15)
• Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa (2019 · Journal of Psychiatric Research · 被引 14)