Tobias B. Haack

Tobias B. Haack publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Tobias B. Haack sits on this spectrum.

Tobias B. Haack D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Tobias B. Haack sits on this spectrum.

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