Georg Friedrich Hoffmann

机构：Heidelberg University, University Hospital Heidelberg · ORCID：0000-0002-6593-896X

发表论文 984 篇 · 总被引 30075 次 · h-index 92

代表论文

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings (2024 · Nature Genetics · 被引 55)
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia (2025 · Brain · 被引 31)
Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases (2024 · Cell Metabolism · 被引 21)
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening (2024 · Journal of Inherited Metabolic Disease · 被引 15)
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening (2024 · PEDIATRICS · 被引 14)
Vitamin B12 Deficiency Newborn Screening (2024 · PEDIATRICS · 被引 9)