Bernadette R. Gochuico

机构：National Human Genome Research Institute · ORCID：0000-0003-4727-8918

发表论文 164 篇 · 总被引 7394 次 · h-index 45

代表论文

• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
• Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome (2024 · JCI Insight · 被引 13)
• Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities (2023 · Journal of Medical Genetics · 被引 10)
• Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy (2023 · Genetics in Medicine · 被引 10)
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling (2023 · The American Journal of Human Genetics · 被引 8)
• Elevated blood anandamide levels in acute COVID-19 pneumonia with respiratory failure (2025 · The American Journal of the Medical Sciences · 被引 4)