May Christine V. Malicdan

机构：National Human Genome Research Institute · ORCID：0000-0003-1697-6959

发表论文 324 篇 · 总被引 12729 次 · h-index 51

代表论文

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis (2025 · Journal of Clinical Investigation · 被引 4)
• Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis (2025 · American Journal of Respiratory and Critical Care Medicine · 被引 4)
• Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies (2025 · Nature Communications · 被引 3)
• Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 ‐Related Rothmund–Thomson Syndrome (2025 · American Journal of Medical Genetics Part A · 被引 3)