Angela Huebner

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics · 2005 · 444 citations

Mendelian Disorder, Autoimmune Disease, New Interacting Partner +9

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer et al. · The American Journal of Human Genetics · 2005 · 309 citations · Full text

Mendelian Disorder, Novel Type, Genetics +6

Distinct muscle imaging patterns in myofibrillar myopathies

Dirk Fischer, Rudolf A. Kley, Katharina Strach et al. · Neurology · 2008 · 252 citations · Full text

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas et al. · Brain · 2010 · 223 citations · Full text

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

Christina Pamporaki, Barbora Hamplová, Mirko Peitzsch et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 176 citations · Full text