William A. Gahl

机构：National Institutes of Health, University of Puerto Rico, Medical Sciences Campus, National Human Genome Research Institute, Office of the Director, Université Bourgogne Franche-Comté, Office of the Director · ORCID：0000-0002-2494-6752

发表论文 1247 篇 · 总被引 40442 次 · h-index 104

代表论文

• Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts (2025 · Orphanet Journal of Rare Diseases · 被引 11)
• A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis (2025 · NeuroSci · 被引 6)
• A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions (2025 · Frontiers in Public Health · 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)
• RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency (2025 · Molecular Genetics and Metabolism · 被引 3)
• Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism (2025 · Scientific Reports · 被引 2)