Margaret P Adam

机构：University of Washington · ORCID：0000-0001-9817-5121

发表论文 293 篇 · 总被引 11085 次 · h-index 45

代表论文

• Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia (2024 · Journal of Clinical Immunology · 被引 16)
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
• The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease (2023 · Med · 被引 10)
• Maternal risk factors for fetal alcohol spectrum disorders: Distal variables (2023 · Alcoholism Clinical and Experimental Research · 被引 9)
• Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing (2024 · Genetics in Medicine Open · 被引 7)
• Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability (2024 · Proceedings of the National Academy of Sciences · 被引 6)