Caterina Terrile

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies Köpke et al. · The American Journal of Human Genetics · 2015 · 133 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Christian Staufner, Tobias B. Haack, Marlies Köpke et al. · Journal of Inherited Metabolic Disease · 2015 · 111 citations

Medicine, Internal Medicine, Molecular Genetics +17