Sabine Scholl‐Bürgi

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 285 citations · Full text

Family Medicine, Metabolic Syndrome, Lipid Disorder +10

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Tracy A. Briggs, Gillian Rice, Sarah B. Daly et al. · Nature Genetics · 2011 · 254 citations · Full text

Bone Disease, Rheumatology, Autoimmune Disease +13

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15