Debra S. Regier

机构：Children's National, George Washington University, Carolinas Medical Center, Levine Children's Hospital, Advocate Children's Hospital, Advocate Children's Hospital · ORCID：0000-0001-7525-0088

发表论文 103 篇 · 总被引 1829 次 · h-index 18

代表论文

• GM1 gangliosidosis type II: Results of a 10-year prospective study (2024 · Genetics in Medicine · 被引 19)
• The clinical geneticist workforce: Community forums to address challenges and opportunities (2024 · Genetics in Medicine · 被引 5)
• Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing (2024 · JIMD Reports · 被引 4)
• From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1 (2026 · Journal of Inherited Metabolic Disease · 被引 3)
• New Phenotypic Features in FGFR1 ‐Related Osteoglophonic Dysplasia (2025 · American Journal of Medical Genetics Part A · 被引 3)
• Hyperammonemia in the Pediatric Emergency Department (2024 · Pediatric Emergency Care · 被引 3)