Tobias B. Haack
Africa Center(US)TUM Klinikum(DE)University Children's Hospital Tübingen(DE)Bernstein Center for Computational Neuroscience Tübingen(DE)STZ eyetrial(DE)University of Tübingen(DE)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurological diseases and metabolism
Most-Cited Works
- → Genetic diagnosis of Mendelian disorders via RNA sequencing(2017)585 cited
- → Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA(2012)358 cited
- → Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation(2011)262 cited
- → Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency(2010)249 cited
- → Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation(2013)246 cited
- → Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease(2013)230 cited