Annette Feigenbaum

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary MacDougall, Changming Lu et al. · The American Journal of Human Genetics · 2015 · 222 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2009 · 146 citations · Full text

Laboratory Medicine, Coagulopathy, Hematology +1

Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme

Robert M. Garrett, Jean L. Johnson, Tyler N. Graf et al. · Proceedings of the National Academy of Sciences · 1998 · 131 citations · Full text

Singleton–Merten syndrome: An autosomal dominant disorder with variable expression

Annette Feigenbaum, Christine Müller, Christopher Yale et al. · American Journal of Medical Genetics Part A · 2013 · 80 citations

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity

Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay et al. · American Journal of Medical Genetics Part A · 2006 · 57 citations