Tobias B. Haack

Overview

Best Publications

• Genetic diagnosis of Mendelian disorders via RNA sequencing

  Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich

  522
  Citations

• 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;Allison Gregory

  380
  Citations

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

  Tobias B. Haack;Katharina Danhauser;Birgit Haberberger;Jonathan Hoser

  312
  Citations

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

  Monika B. Hartig;Arcangela Iuso;Tobias Haack;Tomasz Kmiec

  271
  Citations

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

  Susan J. Hayflick;Michael C. Kruer;Allison Gregory;Tobias B. Haack

  262
  Citations

• Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

  Cornelia Kornblum;Thomas J Nicholls;Tobias B Haack;Susanne Schöler

  254
  Citations

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

  Marjan E. Steenweg;Daniele Ghezzi;Tobias Haack;Truus E.M. Abbink

  239
  Citations

• Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

  Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

  232
  Citations

• PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

  Matthis Synofzik;Michael A. Gonzalez;Charles Marques Lourenco;Marie Coutelier;Marie Coutelier

  225
  Citations

• Novel (ovario) leukodystrophy related to AARS2 mutations

  Cristina Dallabona;Daria Diodato;Sietske H. Kevelam;Tobias B. Haack

  222
  Citations

• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

  Tobias B Haack;Birgit Haberberger;Eva-Maria Frisch;Thomas Wieland

  218
  Citations

• Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

  Sabrina Dusi;Lorella Valletta;Tobias B. Haack;Yugo Tsuchiya

  217
  Citations

• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

  Daniele Ghezzi;Enrico Baruffini;Tobias B. Haack;Federica Invernizzi

  206
  Citations

• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

  Matthis Synofzik;Anne S Soehn;Janina Gburek-Augustat;Julia Schicks

  191
  Citations

• Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

  Michael Zech;Sylvia Boesch;Esther M. Maier;Ingo Borggraefe

  171
  Citations

• ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

  Tobias B. Haack;Robert Kopajtich;Peter Freisinger;Thomas Wieland

  164
  Citations

• Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

  Xiaowu Gai;Daniele Ghezzi;Mark A. Johnson;Caroline A. Biagosch

  161
  Citations

• Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

  Yair Anikster;Yair Anikster;Tobias B. Haack;Thierry Vilboux;Ben Pode-Shakked;Ben Pode-Shakked

  160
  Citations

• Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

  Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  148
  Citations

• Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

  Johannes Koch;René G Feichtinger;Peter Freisinger;Mechthild Pies

  148
  Citations