Tobias B. Haack

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

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 359 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika Hartig, Arcangela Iuso, Tobias B. Haack et al. · The American Journal of Human Genetics · 2011 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 252 citations

Life Sciences, Genetics, Molecular Genetics +9

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 249 citations · Full text

Life Sciences, Genetics, Neurology +17